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
CCP110	9738	broad.mit.edu	37	16	19553224	19553224	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:19553224G>C	ENST00000396212.2	+	7	2501	c.2065G>C	c.(2065-2067)Gag>Cag	p.E689Q	CCP110_ENST00000381396.5_Missense_Mutation_p.E689Q|CCP110_ENST00000396208.2_Missense_Mutation_p.E689Q	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	689					centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	p.E689Q(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						AGAAGAGCAGGAGAAAATGTT	0.348000													15	91					0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165548362	165548362	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:165548362G>A	ENST00000264381.3	-	2	626	c.460C>T	c.(460-462)Cat>Tat	p.H154Y	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	154					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.H154Y(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TCATAAACATGTAAAGATGAT	0.383000													9	44					0	0	1	0	0
SAMD15	161394	broad.mit.edu	37	14	77845256	77845256	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr14:77845256G>C	ENST00000216471.4	+	1	1781	c.1495G>C	c.(1495-1497)Gag>Cag	p.E499Q	SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	499								p.E499Q(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGATCCCTCAGAGTCTCAGAC	0.408000													29	81					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625947	29625947	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr20:29625947T>C	ENST00000278882.3	+	5	571	c.191T>C	c.(190-192)aTt>aCt	p.I64T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T														p.I64T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCAGATGCAATTGGACCAAGA	0.343000													5	77					0	0	1	0	0
PLP1	5354	broad.mit.edu	37	X	103044264	103044264	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:103044264C>T	ENST00000418604.1	+	7	979	c.699C>T	c.(697-699)ttC>ttT	p.F233F	PLP1_ENST00000303958.2_Silent_p.F233F|PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000361621.2_Silent_p.F198F	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	233					cell death|synaptic transmission	integral to membrane		p.F233F(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						TCCTGCAGTTCCAAATGACCT	0.413000													86	94					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48575671	48575671	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr18:48575671C>G	ENST00000342988.3	+	4	969	c.431C>G	c.(430-432)tCa>tGa	p.S144*	SMAD4_ENST00000398417.2_Nonsense_Mutation_p.S144*|SMAD4_ENST00000452201.2_Nonsense_Mutation_p.S144*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.S144*|RP11-729L2.2_ENST00000590722.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	144					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.S144*(5)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TAAGATCTCTCAGGATTAACA	0.294000													13	33					0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60613585	60613585	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:60613585A>G	ENST00000326270.9	+	7	686	c.418A>G	c.(418-420)Acg>Gcg	p.T140A	TLK2_ENST00000582809.1_5'UTR|TLK2_ENST00000343388.7_Missense_Mutation_p.T108A|TLK2_ENST00000346027.5_Missense_Mutation_p.T140A|TLK2_ENST00000542523.1_Missense_Mutation_p.T108A			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	140					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.T140A(4)|p.T139A(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AAAGGAGGCAACGGAGGAGCA	0.512000													36	142					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72893294	72893294	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:72893294T>C	ENST00000261180.4	+	6	1562	c.1466T>C	c.(1465-1467)cTg>cCg	p.L489P		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	489					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.L489P(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CAGAGGTTTCTGACCGATGTT	0.448000													27	129					0	0	1	0	0
AGAP6	414189	broad.mit.edu	37	10	51748684	51748684	+	Missense_Mutation	SNP	G	G	A	rs61848260		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr10:51748684G>A	ENST00000374056.4	+	1	607	c.209G>A	c.(208-210)cGg>cAg	p.R70Q	AGAP6_ENST00000412531.3_Missense_Mutation_p.R70Q			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	70					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						GTTCGTGACCGGGAGATGCCT	0.592000													9	219					0	0	1	0	0
DNAJB11	51726	broad.mit.edu	37	3	186301672	186301672	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:186301672G>C	ENST00000439351.1	+	9	1688	c.759G>C	c.(757-759)agG>agC	p.R253S	DNAJB11_ENST00000265028.3_Missense_Mutation_p.R253S			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	253					protein folding	endoplasmic reticulum lumen	heat shock protein binding	p.R253S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TATTTGAAAGGAGAGGAGATG	0.338000													9	153					0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43912048	43912048	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:43912048C>A	ENST00000314537.5	+	13	1391	c.1166C>A	c.(1165-1167)gCc>gAc	p.A389D	CRHR1_ENST00000293493.7_Missense_Mutation_p.A214D|CRHR1_ENST00000352855.5_Missense_Mutation_p.A349D|CRHR1_ENST00000577353.1_Missense_Mutation_p.A375D|CRHR1_ENST00000398285.3_Missense_Mutation_p.A418D|CRHR1_ENST00000339069.5_Missense_Mutation_p.P243T	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	418					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	p.A389D(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TCGATCCGTGCCCGAGTGGCC	0.632000													3	32					0.00024832	0.000257486	1	1	0
NBPF14	25832	broad.mit.edu	37	1	148012533	148012533	+	Missense_Mutation	SNP	T	T	G	rs144977899		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:148012533T>G	ENST00000369219.1	-	12	1442	c.1426A>C	c.(1426-1428)Aag>Cag	p.K476Q				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5.					cytoplasm		p.E481D(1)|p.K476Q(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CCAACATGCTTTTCCTCCAAT	0.448000													4	19					0	0	1	0	0
PIGX	54965	broad.mit.edu	37	3	196460684	196460684	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:196460684C>G	ENST00000314118.4	+	6	847	c.565C>G	c.(565-567)Cta>Gta	p.L189V	PIGX_ENST00000541663.1_Missense_Mutation_p.L140V	NM_017861.3	NP_060331.3	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	230					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane		p.L189V(2)		endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		ACATACCTCTCTAGTATGTTC	0.378000													31	98					0	0	1	0	0
NR0B1	190	broad.mit.edu	37	X	30326416	30326416	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:30326416G>A	ENST00000378970.4	-	1	1299	c.1065C>T	c.(1063-1065)gcC>gcT	p.A355A	NR0B1_ENST00000378963.1_Silent_p.A60A|NR0B1_ENST00000453287.1_Silent_p.A355A	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	355	Ligand-binding (By similarity).				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	p.A355A(1)		central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GGACCTGGGAGGCGGAGGGCA	0.632000											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	29					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57567684	57567684	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:57567684C>T	ENST00000243077.3	+	22	3934	c.3468C>T	c.(3466-3468)acC>acT	p.T1156T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1156	LDL-receptor class A 10.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.T1156T(2)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCAACAACACCTCAGTCTGCC	0.622000													22	77					0	0	1	0	0
PRKACA	5566	broad.mit.edu	37	19	14218166	14218166	+	Silent	SNP	G	G	A	rs56105247	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:14218166G>A	ENST00000308677.4	-	2	298	c.102C>T	c.(100-102)ccC>ccT	p.P34P	PRKACA_ENST00000590853.1_Silent_p.P34P|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000589994.1_Silent_p.P26P	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	34					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding	p.P26P(1)|p.P34P(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						TTACCTGAGCGGGACTTTCCC	0.527000													4	58					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140870387	140870387	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr9:140870387C>G	ENST00000371372.1	+	12	1717	c.1572C>G	c.(1570-1572)ctC>ctG	p.L524L	CACNA1B_ENST00000371355.4_Silent_p.L525L|CACNA1B_ENST00000371357.1_Silent_p.L525L|CACNA1B_ENST00000371363.1_Silent_p.L524L|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Silent_p.L524L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	524					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.L524L(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCCTGGGTCTCTTCCTCACAG	0.567000													5	20					0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17298312	17298312	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr9:17298312G>T	ENST00000380647.3	+	7	1192	c.1108G>T	c.(1108-1110)Gaa>Taa	p.E370*	CNTLN_ENST00000380641.4_Nonsense_Mutation_p.E370*|CNTLN_ENST00000425824.1_Nonsense_Mutation_p.E370*|CNTLN_ENST00000262360.5_Nonsense_Mutation_p.E370*			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	370						centriole|membrane	two-component sensor activity	p.E370*(2)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GAGAAATCAGGAAGATGTTCA	0.343000													20	34					2.39556e-15	2.64368e-15	1	1	0
SLCO5A1	81796	broad.mit.edu	37	8	70617351	70617351	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:70617351C>A	ENST00000260126.3	-	6	2243	c.1537G>T	c.(1537-1539)Gtg>Ttg	p.V513L	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.V513L|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.V458L	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	513						integral to membrane|plasma membrane	transporter activity	p.V513L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AGTAAAGACACACCACTGCAG	0.398000													16	181					1.3612e-06	1.4454e-06	1	1	0
CACNA1B	774	broad.mit.edu	37	9	140919511	140919511	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr9:140919511C>T	ENST00000277549.5	+	20	3318	c.749C>T	c.(748-750)gCa>gTa	p.A250V	CACNA1B_ENST00000371355.4_Missense_Mutation_p.A1059V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A1059V|CACNA1B_ENST00000545473.1_Missense_Mutation_p.A42V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A1058V|CACNA1B_ENST00000371367.5_Missense_Mutation_p.A42V|CACNA1B_ENST00000371372.1_Missense_Mutation_p.A1058V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A1058V			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1058					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.A1058V(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCAGAGGATGCAGACAATCAG	0.592000													9	43					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77760049	77760049	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr13:77760049C>G	ENST00000407578.2	-	31	4667	c.4401G>C	c.(4399-4401)ctG>ctC	p.L1467L	MYCBP2_ENST00000544440.2_Silent_p.L1429L|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.L1429L	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.L1429L(4)|p.L1467L(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCAATAACCTCAGACAACAGG	0.383000													18	50					0	0	1	0	0
PDPR	55066	broad.mit.edu	37	16	70190452	70190452	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:70190452C>T	ENST00000288050.4	+	19	3267	c.2310C>T	c.(2308-2310)ttC>ttT	p.F770F	RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000567046.1_Silent_p.F128F|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000542659.1_Silent_p.F115F|PDPR_ENST00000398122.3_Silent_p.F670F|PDPR_ENST00000568530.1_Silent_p.F770F	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	770					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	p.F770F(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TCACCATGTTCATCCTGGACG	0.532000													86	298					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617486	77617486	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:77617486C>G	ENST00000521891.2	+	2	1611	c.1163C>G	c.(1162-1164)aCc>aGc	p.T388S	ZFHX4_ENST00000050961.6_Missense_Mutation_p.T388S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T388S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.T388S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	388						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T388S(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCGCGAGCACCTCGAGCTCA	0.532000										HNSCC(33;0.089)			5	24					0	0	1	0	0
STAT2	6773	broad.mit.edu	37	12	56744927	56744927	+	Missense_Mutation	SNP	C	C	T	rs149666262		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:56744927C>T	ENST00000314128.4	-	10	1012	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	STAT2_ENST00000418572.2_Missense_Mutation_p.R326Q|STAT2_ENST00000557235.1_Missense_Mutation_p.R326Q			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	330					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.R330Q(3)		NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GATGAGGGGTCGATGGGGAGT	0.507000													39	123					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74042320	74042320	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:74042320G>C	ENST00000409561.1	+	3	1091	c.970G>C	c.(970-972)Gag>Cag	p.E324Q		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	324								p.E324Q(4)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCAGACACTTGAGAGTAACCC	0.463000													23	103					0	0	1	0	0
AMER2	219287	broad.mit.edu	37	13	25743889	25743889	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr13:25743889G>T	ENST00000357816.2	-	3	1987	c.1512C>A	c.(1510-1512)ccC>ccA	p.P504P	AMER2_ENST00000381853.3_Silent_p.P504P|AMER2_ENST00000515384.1_Silent_p.P623P					APC membrane recruitment protein 2									p.P623P(2)|p.P504P(2)									GGTGCACCACGGGATGGCTAG	0.562000													36	92					4.32679e-17	4.82664e-17	1	1	0
PAPSS1	9061	broad.mit.edu	37	4	108552995	108552995	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr4:108552995G>A	ENST00000265174.4	-	11	1800	c.1528C>T	c.(1528-1530)Cgg>Tgg	p.R510W		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	510					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	p.R510W(1)		NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		GCAACCATCCGTGCTCTGCAA	0.418000													5	68					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70352266	70352266	+	Silent	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:70352266C>A	ENST00000333646.6	+	31	4492	c.4293C>A	c.(4291-4293)ctC>ctA	p.L1431L	MED12_ENST00000374080.3_Silent_p.L1431L|MED12_ENST00000374102.1_Silent_p.L1431L|MED12_ENST00000478889.1_Intron	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1431					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.L1431L(4)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGGCCCCCCTCATTGCTAAAC	0.557000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						29	44					2.08457e-15	2.30872e-15	1	1	0
PPP6R3	55291	broad.mit.edu	37	11	68377414	68377414	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:68377414A>C	ENST00000393799.2	+	24	2778	c.2511A>C	c.(2509-2511)aaA>aaC	p.K837N	PPP6R3_ENST00000529710.1_Missense_Mutation_p.K751N|PPP6R3_ENST00000393800.2_Missense_Mutation_p.K831N|PPP6R3_ENST00000534534.1_Missense_Mutation_p.K599N|PPP6R3_ENST00000527403.2_Missense_Mutation_p.K796N|PPP6R3_ENST00000524845.1_Missense_Mutation_p.K802N|PPP6R3_ENST00000265637.4_Missense_Mutation_p.K785N|PPP6R3_ENST00000393801.3_Missense_Mutation_p.K837N|PPP6R3_ENST00000524904.1_Missense_Mutation_p.K825N|PPP6R3_ENST00000265636.5_Missense_Mutation_p.K751N			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	831					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	p.K837N(2)|p.K751N(2)		breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTGCTTGTAAAGACGCAGAGG	0.592000													228	427					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	402317	402317	+	Missense_Mutation	SNP	C	C	T	rs12358220	by1000genomes	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr10:402317C>T	ENST00000540204.1	-	8	1220	c.997G>A	c.(997-999)Gcc>Acc	p.A333T	DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000280886.6_Intron			Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	0						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGGAACCAGGCTAGGCCCCTT	0.527000													6	20					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100061923	100061923	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:100061923A>G	ENST00000524871.1	+	14	1936	c.1646A>G	c.(1645-1647)tAc>tGc	p.Y549C	CNTN5_ENST00000279463.3_Missense_Mutation_p.Y549C|CNTN5_ENST00000527185.1_Missense_Mutation_p.Y549C|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.Y549C|CNTN5_ENST00000418526.2_Missense_Mutation_p.Y475C	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	549	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.Y549C(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GAGGGAAAGTACGTTTGCCGA	0.383000													7	95					0	0	1	0	0
LCAT	3931	broad.mit.edu	37	16	67976321	67976321	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:67976321G>C	ENST00000264005.5	-	5	722	c.693C>G	c.(691-693)atC>atG	p.I231M		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	231					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity	p.I231M(2)		cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		CCCCAAGAGAGATGAAGCCAT	0.582000													3	20					0	0	1	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090800	115090800	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr13:115090800G>A	ENST00000361283.1	+	3	1792	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	495	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	p.E495K(2)									TGTCTTCCCTGAGACCCGAAA	0.493000													42	137					0	0	1	0	0
SULT1B1	27284	broad.mit.edu	37	4	70596267	70596267	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr4:70596267G>A	ENST00000310613.2	-	7	1027	c.730C>T	c.(730-732)Cta>Tta	p.L244L		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	244					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		p.L244L(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GTAGTTGGTAGATGTGTATAA	0.358000													12	167					0	0	1	0	0
OR2W5	441932	broad.mit.edu	37	1	247655162	247655162	+	RNA	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:247655162C>A	ENST00000522351.1	+	0	793							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P245T(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCTCTTCTCACCTCACAGTGG	0.542000													53	194					7.92265e-33	9.16891e-33	1	1	0
BAX	581	broad.mit.edu	37	19	49459574	49459574	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:49459574G>T	ENST00000293288.8	+	4	353	c.353G>T	c.(352-354)aGc>aTc	p.S118I	BAX_ENST00000345358.7_Missense_Mutation_p.S118I|BAX_ENST00000539787.1_Missense_Mutation_p.S118I|BAX_ENST00000415969.2_Missense_Mutation_p.S118I|BAX_ENST00000354470.3_Missense_Mutation_p.S69I|BAX_ENST00000391871.3_3'UTR	NM_004324.3	NP_004315.1	Q07812	BAX_HUMAN	BCL2-associated X protein	118					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity	p.S118I(4)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		TACTTTGCCAGCAAACTGGTG	0.587000													4	13					0.00024832	0.000257486	1	1	0
HEPH	9843	broad.mit.edu	37	X	65476147	65476147	+	Silent	SNP	T	T	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:65476147T>A	ENST00000519389.1	+	17	3212	c.3033T>A	c.(3031-3033)acT>acA	p.T1011T	HEPH_ENST00000374727.3_Silent_p.T960T|HEPH_ENST00000336279.5_Silent_p.T690T|HEPH_ENST00000419594.1_Silent_p.T768T|HEPH_ENST00000343002.2_Silent_p.T957T|HEPH_ENST00000441993.2_Silent_p.T960T			Q9BQS7	HEPH_HUMAN	hephaestin	957	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.T957T(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGGATGAAACTTTCTTGGAGA	0.398000													10	128					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505829	195505829	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:195505829G>A	ENST00000463781.3	-	2	13081	c.12622C>T	c.(12622-12624)Cct>Tct	p.P4208S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P4208S|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	970					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACAGGAAGAGGGGTGGCGTGA	0.597000													3	1					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51889442	51889442	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:51889442G>A	ENST00000371117.3	-	32	5441	c.5166C>T	c.(5164-5166)atC>atT	p.I1722I	PKHD1_ENST00000340994.4_Silent_p.I1722I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1722	IPT/TIG 12; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.I1722I(4)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCCACCCTCTGATGCAGTCAT	0.532000													30	270					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37396655	37396655	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:37396655G>T	ENST00000361924.2	+	22	7014	c.6640G>T	c.(6640-6642)Gaa>Taa	p.E2214*	GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.E2229*|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2214	GRIP.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	p.L2213_E2214>F*(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAAAATTTTGGAAAGAGAAGA	0.383000													39	227					2.22293e-35	2.59202e-35	1	1	0
RPL22	6146	broad.mit.edu	37	1	6253091	6253091	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:6253091G>C	ENST00000234875.4	-	3	179	c.141C>G	c.(139-141)atC>atG	p.I47M	RPL22_ENST00000497965.1_Missense_Mutation_p.I14M|RPL22_ENST00000484532.1_Missense_Mutation_p.I14M	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	47					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome	p.I47M(2)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CGTTCACTTTGATCCTTTCTT	0.438000			T	RUNX1	"""AML, CML"""								8	55					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													4	36					0	0	1	0	0
ZNF597	146434	broad.mit.edu	37	16	3490921	3490921	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:3490921A>G	ENST00000301744.4	-	3	281	c.46T>C	c.(46-48)Ttt>Ctt	p.F16L	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	16	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F16L(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						AGATCCTCAAAGAGTATTGGT	0.498000													7	54					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49086776	49086776	+	Silent	SNP	T	T	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:49086776T>A	ENST00000376265.2	-	6	784	c.723A>T	c.(721-723)gcA>gcT	p.A241A	CACNA1F_ENST00000323022.5_Silent_p.A241A|CACNA1F_ENST00000376251.1_Silent_p.A176A	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	241					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.A241A(2)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GCACGAGCAGTGCAATGTGCA	0.557000													5	9					0	0	1	0	0
GTF2I	2969	broad.mit.edu	37	7	74114631	74114631	+	Missense_Mutation	SNP	G	G	A	rs145729076		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:74114631G>A	ENST00000324896.4	+	5	817	c.428G>A	c.(427-429)cGa>cAa	p.R143Q	AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000346152.4_Missense_Mutation_p.R143Q|GTF2I_ENST00000353920.4_Missense_Mutation_p.R143Q|GTF2I_ENST00000443166.1_Missense_Mutation_p.R143Q|AC083884.8_ENST00000434256.1_RNA|AC083884.8_ENST00000594967.1_RNA|GTF2I_ENST00000416070.1_Missense_Mutation_p.R143Q	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	143					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R143Q(2)		NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AAGATGCTGCGAGACCAGTCG	0.478000													24	311					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231109762	231109762	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:231109762G>A	ENST00000392045.3	+	6	745	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	SP140_ENST00000417495.3_Missense_Mutation_p.E211K|SP140_ENST00000420434.3_Missense_Mutation_p.E211K|SP140_ENST00000350136.5_Missense_Mutation_p.E191K|SP140_ENST00000343805.6_Missense_Mutation_p.E211K|SP140_ENST00000486687.2_Missense_Mutation_p.E211K	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	211					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E211K(2)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGGAGATGCTGAAGATGCACC	0.448000													26	292					0	0	1	0	0
RPL11	6135	broad.mit.edu	37	1	24021184	24021184	+	Missense_Mutation	SNP	C	C	T	rs11556036		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:24021184C>T	ENST00000374550.3	+	4	344	c.299C>T	c.(298-300)tCa>tTa	p.S100L	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	100					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	p.S100L(2)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		AACAACTTCTCAGATACTGGA	0.438000													8	35					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	145103245	145103245	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:145103245C>G	ENST00000367545.3	+	60	8820	c.8820C>G	c.(8818-8820)ctC>ctG	p.L2940L	UTRN_ENST00000367526.4_Silent_p.L495L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2940	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.L2940L(2)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATTGGTTGCTCAATGTCTATG	0.323000													35	59					0	0	1	0	0
GC	2638	broad.mit.edu	37	4	72634141	72634141	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr4:72634141G>T	ENST00000273951.8	-	3	481	c.138C>A	c.(136-138)gtC>gtA	p.V46V	GC_ENST00000504199.1_Silent_p.V65V|GC_ENST00000513476.1_Silent_p.V46V|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	46	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	p.V65V(2)|p.V46V(2)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TACTGTACAGGACTAGTGACC	0.468000													28	75					5.77227e-19	6.5096e-19	1	1	0
ANAPC1	64682	broad.mit.edu	37	2	112604723	112604723	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:112604723G>C	ENST00000341068.3	-	16	2616	c.1844C>G	c.(1843-1845)tCt>tGt	p.S615C		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	615					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm		p.S615C(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						ACCTAACTCAGAGGTGGCAAT	0.328000													10	104					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99786150	99786150	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:99786150G>A	ENST00000426455.1	+	6	915	c.508G>A	c.(508-510)Gag>Aag	p.E170K	STAG3_ENST00000317296.5_Missense_Mutation_p.E170K|STAG3_ENST00000394018.2_Intron			Q9UJ98	STAG3_HUMAN	stromal antigen 3	170					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	p.E170K(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGTTTAATGAGGTGGAAGA	0.413000													104	549					0	0	1	0	0
CCDC90B	60492	broad.mit.edu	37	11	82985720	82985720	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:82985720C>G	ENST00000529689.1	-	4	822	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	CCDC90B_ENST00000455220.2_Missense_Mutation_p.E121Q|CCDC90B_ENST00000529611.1_Missense_Mutation_p.E29Q|CCDC90B_ENST00000525503.1_Missense_Mutation_p.E29Q|CCDC90B_ENST00000529073.1_Missense_Mutation_p.E130Q			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	130						integral to membrane|mitochondrion		p.E130Q(2)		kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TCACTTTTCTCTAGGATGACC	0.308000													34	68					0	0	1	0	0
MLH1	4292	broad.mit.edu	37	3	37059088	37059088	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:37059088C>T	ENST00000231790.2	+	10	1098	c.882C>T	c.(880-882)ctC>ctT	p.L294L	MLH1_ENST00000435176.1_Silent_p.L196L|MLH1_ENST00000536378.1_Silent_p.L53L|MLH1_ENST00000458205.2_Silent_p.L53L|MLH1_ENST00000455445.2_Silent_p.L53L|MLH1_ENST00000539477.1_Silent_p.L53L	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	294			Missing (in HNPCC2).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.L294L(2)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TCCTGTACCTCAGGTAATGTA	0.418000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				27	88					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41105459	41105459	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:41105459T>G	ENST00000308370.7	+	3	338	c.338T>G	c.(337-339)cTg>cGg	p.L113R	LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.L76R|LTBP4_ENST00000545697.1_5'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	113					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	p.L113R(2)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGCAGCCACTGACGTGAGTG	0.637000													14	295					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156244470	156244470	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:156244470C>G	ENST00000361813.5	-	5	606	c.462G>C	c.(460-462)aaG>aaC	p.K154N	SMG5_ENST00000368267.4_Missense_Mutation_p.K154N	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	154					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	p.K154N(2)		NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					ACACTGGCTTCTTGCATCCTA	0.473000													22	93					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51261203	51261203	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:51261203G>A	ENST00000395542.2	-	3	513	c.329C>T	c.(328-330)tCa>tTa	p.S110L	COBL_ENST00000441453.1_Missense_Mutation_p.S110L|COBL_ENST00000265136.7_Missense_Mutation_p.S110L|COBL_ENST00000395540.2_Missense_Mutation_p.S110L			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	110								p.S110L(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTGGGTTTCTGAAGACCGAAT	0.423000													22	71					0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46608818	46608818	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:46608818G>A	ENST00000263734.3	+	13	2639	c.2129G>A	c.(2128-2130)cGa>cAa	p.R710Q		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	710					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	p.R710Q(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AAGCTGAAGCGACAGCTGGAG	0.617000													4	51					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51297694	51297694	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:51297694C>T	ENST00000266037.9	+	23	2315	c.2292C>T	c.(2290-2292)ttC>ttT	p.F764F		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	764						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.F764F(1)|p.F753F(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AAGAACTTTTCCAGTCCATCC	0.473000													6	34					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77759506	77759506	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr13:77759506C>G	ENST00000407578.2	-	32	4717	c.4451G>C	c.(4450-4452)gGa>gCa	p.G1484A	MYCBP2_ENST00000544440.2_Missense_Mutation_p.G1446A|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G1446A	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.G1446A(4)|p.G1484A(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AACTGCTTTTCCTGTAGCTTT	0.323000													87	215					0	0	1	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40821518	40821518	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:40821518C>A	ENST00000293349.6	-	12	2556	c.2126G>T	c.(2125-2127)tGc>tTc	p.C709F	PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.C535F|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.C712F			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	712	FERM.				signal transduction	cytoskeleton		p.C712F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CATTAGCTGGCAGGCGGCCAC	0.657000													3	11					1	1	1	1	0
FXR1	8087	broad.mit.edu	37	3	180671582	180671582	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:180671582C>T	ENST00000357559.4	+	9	1218	c.834C>T	c.(832-834)ttC>ttT	p.F278F	FXR1_ENST00000491062.1_Silent_p.F229F|FXR1_ENST00000445140.2_Silent_p.F278F|FXR1_ENST00000468861.1_Silent_p.F193F|FXR1_ENST00000480918.1_Silent_p.F265F|FXR1_ENST00000305586.7_Silent_p.F193F	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	278					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		p.F278F(2)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			CTAGAGGTTTCTTGGAATTTG	0.338000													24	132					0	0	1	0	0
NDUFC2	4718	broad.mit.edu	37	11	77790745	77790745	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:77790745C>T	ENST00000281031.4	-	1	520	c.46G>A	c.(46-48)Gag>Aag	p.E16K	NDUFC2_ENST00000525085.1_Missense_Mutation_p.E16K|NDUFC2-KCTD14_ENST00000530054.1_Missense_Mutation_p.E16K|NDUFC2-KCTD14_ENST00000528251.1_Missense_Mutation_p.E16K|NDUFC2_ENST00000528164.1_Missense_Mutation_p.E16K|NDUFC2_ENST00000527806.1_Missense_Mutation_p.E16K|NDUFC2_ENST00000534029.1_Missense_Mutation_p.E16K	NM_001204055.1|NM_004549.5	NP_001190984.1|NP_004540.1			NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa									p.E16K(1)		large_intestine(1)|lung(2)|prostate(1)	4	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			CTCCGGGCCTCATCCGGCAGA	0.612000													3	36					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39025783	39025783	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:39025783G>C	ENST00000355481.4	+	79	11478	c.11347G>C	c.(11347-11349)Gag>Cag	p.E3783Q	RYR1_ENST00000360985.3_Missense_Mutation_p.E3788Q|RYR1_ENST00000359596.3_Missense_Mutation_p.E3788Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3788					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.E3788Q(2)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCTCCAGGAGAGACAGGTGC	0.557000													15	173					0	0	1	0	0
TSC22D2	9819	broad.mit.edu	37	3	150128747	150128747	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:150128747A>T	ENST00000361875.2	+	1	2626	c.1610A>T	c.(1609-1611)cAg>cTg	p.Q537L	TSC22D2_ENST00000361136.2_Missense_Mutation_p.Q537L	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	537							sequence-specific DNA binding transcription factor activity	p.Q537L(2)		cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CCTCTGGCCCAGTCGCAACAG	0.602000													4	26					0	0	1	0	0
MYNN	55892	broad.mit.edu	37	3	169498415	169498415	+	Silent	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:169498415A>G	ENST00000349841.5	+	4	1761	c.1098A>G	c.(1096-1098)ggA>ggG	p.G366G	MYNN_ENST00000544106.1_Silent_p.G366G|MYNN_ENST00000356716.4_Silent_p.G366G|MYNN_ENST00000392733.1_Silent_p.G366G	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	366						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G366G(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			GTGATAAAGGATTTGCTCAGA	0.328000													3	28					0	0	1	0	0
ERI3	79033	broad.mit.edu	37	1	44785335	44785335	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:44785335C>T	ENST00000372257.2	-	4	752	c.571G>A	c.(571-573)Gta>Ata	p.V191I	ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000372259.5_Missense_Mutation_p.V76I|ERI3_ENST00000537474.1_Missense_Mutation_p.V14I	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	191	Exonuclease.					intracellular	exonuclease activity|metal ion binding|nucleic acid binding	p.V191I(2)		endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGATGGACTACAGGCTGGACA	0.517000													14	134					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43893319	43893319	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:43893319C>T	ENST00000562955.1	+	25	3546	c.3546C>T	c.(3544-3546)gtC>gtT	p.V1182V	SZT2_ENST00000372442.1_Silent_p.V340V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1239						peroxisome		p.V340V(4)|p.V1182V(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGTGTCCTGTCTACATCTACA	0.602000													6	133					0	0	1	0	0
TICAM1	148022	broad.mit.edu	37	19	4817852	4817852	+	Missense_Mutation	SNP	G	G	A	rs141394423	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:4817852G>A	ENST00000248244.5	-	2	767	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	180					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|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|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity	p.R180C(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TCAATGGGGCGTGGGAGGCTC	0.647000													4	45					0	0	1	0	0
ASNS	440	broad.mit.edu	37	7	97486051	97486051	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:97486051G>A	ENST00000175506.4	-	9	1509	c.981C>T	c.(979-981)gtC>gtT	p.V327V	ASNS_ENST00000437628.1_Silent_p.V244V|ASNS_ENST00000444334.1_Silent_p.V306V|ASNS_ENST00000455086.1_Silent_p.V244V|ASNS_ENST00000422745.1_Silent_p.V306V|ASNS_ENST00000394309.3_Silent_p.V327V|ASNS_ENST00000394308.3_Silent_p.V327V	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	327	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	p.V327V(2)		ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGGAAAATATGACTTCATCCA	0.318000													7	98					0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148596502	148596502	+	Silent	SNP	T	T	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:148596502T>C	ENST00000296046.3	+	5	493	c.441T>C	c.(439-441)tcT>tcC	p.S147S	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	147					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	p.S147S(2)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AAATTGGATCTACTGTTGAAG	0.299000													44	160					0	0	1	0	0
DHRS9	10170	broad.mit.edu	37	2	169938312	169938312	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:169938312C>T	ENST00000327239.4	+	5	1725	c.221C>T	c.(220-222)tCa>tTa	p.S74L	DHRS9_ENST00000428522.1_Missense_Mutation_p.S74L|DHRS9_ENST00000357546.2_Missense_Mutation_p.S74L|DHRS9_ENST00000602501.1_Missense_Mutation_p.S74L|DHRS9_ENST00000432060.2_Missense_Mutation_p.S134L|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000412271.1_Missense_Mutation_p.S74L|DHRS9_ENST00000436483.2_Missense_Mutation_p.S74L	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	74					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity	p.S74L(2)		breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GCAGAAACCTCAGAGAGACTT	0.468000													13	141					0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50192686	50192686	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr22:50192686G>A	ENST00000216267.8	-	3	2092	c.1606C>T	c.(1606-1608)Cgc>Tgc	p.R536C	BRD1_ENST00000342989.5_Missense_Mutation_p.R131C|BRD1_ENST00000457780.2_Missense_Mutation_p.R536C|BRD1_ENST00000542442.1_Missense_Mutation_p.R229C|BRD1_ENST00000404760.1_Missense_Mutation_p.R536C|BRD1_ENST00000404034.1_Missense_Mutation_p.R536C	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	536					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	p.R536C(2)|p.R131C(2)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ATCAGCAGGCGAGCGCGCTCC	0.622000													4	20					0	0	1	0	0
RGPD8	727851	broad.mit.edu	37	2	113190977	113190977	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:113190977G>A	ENST00000302558.3	-	1	245	c.54C>T	c.(52-54)ctC>ctT	p.L18L	RGPD8_ENST00000409750.1_Intron|RGPD8_ENST00000330575.5_Silent_p.L18L	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.L18L(2)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GCGACGGGGTGAGACCCAGCA	0.751000													10	10					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27535600	27535600	+	RNA	SNP	T	T	C	rs640284	by1000genomes	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr10:27535600T>C	ENST00000574842.1	+	0	255																											CACAGGTCAATTGCACATGGG	0.517000													6	157					0	0	1	0	0
TBC1D31	93594	broad.mit.edu	37	8	124146378	124146378	+	Missense_Mutation	SNP	G	G	A	rs144947635	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:124146378G>A	ENST00000287380.1	+	17	2521	c.2431G>A	c.(2431-2433)Gct>Act	p.A811T	TBC1D31_ENST00000522420.1_Missense_Mutation_p.A706T|TBC1D31_ENST00000521676.1_Missense_Mutation_p.A688T|TBC1D31_ENST00000378080.2_3'UTR|TBC1D31_ENST00000518805.1_Missense_Mutation_p.A365T|TBC1D31_ENST00000327098.5_Intron|TBC1D31_ENST00000309336.3_Missense_Mutation_p.A811T	NM_145647.3	NP_663622.2			TBC1 domain family, member 31									p.A811T(2)									TCGAGAAATTGCTGCCACAGC	0.318000													15	159					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112672	248112672	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:248112672G>T	ENST00000357191.3	+	1	513	c.513G>T	c.(511-513)agG>agT	p.R171S	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R171S(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GCCGATCCAGGGCCATCAATC	0.483000													116	563					3.88875e-62	4.63947e-62	1	1	0
PHKB	5257	broad.mit.edu	37	16	47723058	47723058	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:47723058G>C	ENST00000455779.1	+	28	2901	c.2716G>C	c.(2716-2718)Gat>Cat	p.D906H	PHKB_ENST00000299167.8_Missense_Mutation_p.D913H|PHKB_ENST00000566044.1_Missense_Mutation_p.D906H|PHKB_ENST00000323584.5_Missense_Mutation_p.D913H			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	913					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	p.D913H(4)|p.D906H(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GCTTCTGCTGGATATTCTGCA	0.428000													20	91					0	0	1	0	0
EVI5	7813	broad.mit.edu	37	1	93159385	93159385	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:93159385G>A	ENST00000370331.1	-	9	1212	c.1203C>T	c.(1201-1203)gtC>gtT	p.V401V	EVI5_ENST00000543509.1_Silent_p.V401V|EVI5_ENST00000540033.1_Silent_p.V401V	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	401	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	p.V401V(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		AATTGTATTTGACTTGGTAAG	0.308000													55	254					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79793823	79793823	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr4:79793823C>T	ENST00000335016.5	+	13	1830	c.1664C>T	c.(1663-1665)cCg>cTg	p.P555L	BMP2K_ENST00000502871.1_Missense_Mutation_p.P555L	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	555	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity	p.P555L(4)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						CAACATCAGCCGTCTCAACAA	0.443000													12	86					0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70133583	70133583	+	Translation_Start_Site	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:70133583G>A	ENST00000550536.1	+	0	414				RAB3IP_ENST00000378815.6_Intron|RAB3IP_ENST00000362025.5_De_novo_Start_OutOfFrame|RAB3IP_ENST00000483530.2_Intron|RAB3IP_ENST00000325555.9_Intron|RAB3IP_ENST00000247833.7_Intron	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein						cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CAGAAGTGATGATGCTGGGTG	0.547000													3	21					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810208	106810208	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:106810208G>A	ENST00000526355.1	-	4	1652	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.S395F|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.S395F	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	395					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.S395F(2)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TTCAGAGCCAGAAGCCTCAGG	0.438000													40	330					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121463465	121463465	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:121463465G>C	ENST00000305949.1	+	4	373	c.328G>C	c.(328-330)Gaa>Caa	p.E110Q		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	110					cell cycle arrest			p.E110Q(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AGATAAAATTGAAGATGTTCT	0.308000													30	91					0	0	1	0	0
LNPEP	4012	broad.mit.edu	37	5	96350700	96350700	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:96350700G>A	ENST00000231368.5	+	13	2969	c.2277G>A	c.(2275-2277)gaG>gaA	p.E759E	LNPEP_ENST00000395770.3_Silent_p.E745E	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	759					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.E759E(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TTGGAAATGAGAACCATACTG	0.433000													50	220					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58580600	58580600	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:58580600C>T	ENST00000317147.5	-	28	4136	c.3804G>A	c.(3802-3804)gaG>gaA	p.E1268E	CNOT1_ENST00000245138.4_Silent_p.E119E|CNOT1_ENST00000569240.1_Silent_p.E1263E|CNOT1_ENST00000441024.2_Silent_p.E1268E	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1268					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.E1268E(4)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCTGATGTAGCTCAGCTAATA	0.388000													28	163					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29972752	29972752	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:29972752G>C	ENST00000378993.1	+	10	1988	c.1315G>C	c.(1315-1317)Gaa>Caa	p.E439Q	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.E439Q	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	439	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.E439Q(4)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGATATGCTTGAAAAGCATTA	0.373000													35	49					0	0	1	0	0
DENND1B	163486	broad.mit.edu	37	1	197576259	197576259	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:197576259C>G	ENST00000235453.4	-	13	1052	c.775G>C	c.(775-777)Gat>Cat	p.D259H	DENND1B_ENST00000400967.2_Missense_Mutation_p.D259H|DENND1B_ENST00000367396.3_Missense_Mutation_p.D289H			Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	289	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	p.D289H(2)|p.D259H(2)		NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						GTGTTTGTATCAACATTTAAC	0.294000													17	72					0	0	1	0	0
LOC101927905	101927905	broad.mit.edu	37	12	8388289	8388289	+	RNA	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:8388289G>A	ENST00000304751.9	+	0	279				FAM86FP_ENST00000427893.2_RNA														p.I124I(1)									CGTGAGAGATGATGGCTGTGC	0.592000													6	145					0	0	1	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062972	76062972	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:76062972G>A	ENST00000260045.3	-	5	1327	c.1222C>T	c.(1222-1224)Ctt>Ttt	p.L408F		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	408					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	p.L408F(2)		cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TTCTGAAAAAGAACAGAAATT	0.383000													21	35					0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151138818	151138818	+	Missense_Mutation	SNP	T	T	C	rs61730039	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:151138818T>C	ENST00000370325.1	-	2	166	c.113A>G	c.(112-114)tAt>tGt	p.Y38C	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.Y38C			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	38					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.Y38C(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGGGCCATAGACAACATC	0.512000													6	107					0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247920842	247920842	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:247920842G>T	ENST00000408896.2	-	1	1140	c.867C>A	c.(865-867)atC>atA	p.I289I		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I289I(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TTAGGGTATAGATGAAAGGAT	0.458000													96	326					1.51934e-53	1.80568e-53	1	1	0
ST6GALNAC3	256435	broad.mit.edu	37	1	77094490	77094490	+	Nonstop_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:77094490G>C	ENST00000328299.3	+	5	1065	c.917G>C	c.(916-918)tGa>tCa	p.*306S		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	0					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.*306S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ACATTGTCTTGATAATGGTTT	0.398000													61	246					0	0	1	0	0
CLPB	81570	broad.mit.edu	37	11	72145149	72145149	+	Missense_Mutation	SNP	C	C	A	rs139361195		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:72145149C>A	ENST00000294053.3	-	1	543	c.370G>T	c.(370-372)Gtt>Ttt	p.V124F	CLPB_ENST00000543042.1_Intron|CLPB_ENST00000445069.2_Intron|CLPB_ENST00000538039.1_Missense_Mutation_p.V124F|CLPB_ENST00000340729.5_Missense_Mutation_p.V124F|CLPB_ENST00000542555.1_5'UTR|CLPB_ENST00000437826.2_Missense_Mutation_p.G43V	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	124					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TAGCAATGAACCACCAGCGCT	0.582000											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	165					0.00307968	0.00315106	1	1	0
SLC38A11	151258	broad.mit.edu	37	2	165755217	165755217	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:165755217G>T	ENST00000303735.4	-	10	1215	c.885C>A	c.(883-885)ctC>ctA	p.L295L	SLC38A11_ENST00000409662.1_Silent_p.L317L|SLC38A11_ENST00000409058.1_Silent_p.L348L|SLC38A11_ENST00000409149.3_Silent_p.L317L	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	317					amino acid transport|sodium ion transport	integral to membrane		p.L295L(2)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TGATAAAAATGAGGGGAGTTG	0.408000													11	116					5.50884e-06	5.7899e-06	1	1	0
CETN3	1070	broad.mit.edu	37	5	89695226	89695226	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:89695226C>A	ENST00000283122.3	-	4	533	c.409G>T	c.(409-411)Gaa>Taa	p.E137*	CETN3_ENST00000522864.1_Intron|CETN3_ENST00000522083.1_Nonsense_Mutation_p.E137*|CETN3_ENST00000522565.1_Nonsense_Mutation_p.E137*	NM_004365.2	NP_004356.2	O15182	CETN3_HUMAN	centrin, EF-hand protein, 3	137	EF-hand 4.				cell division|centrosome cycle|mitosis	centriole	calcium ion binding	p.E137*(2)		lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		CGAAGTTCTTCATCACTCATG	0.358000													82	298					1.53667e-21	1.74571e-21	1	1	0
TACC2	10579	broad.mit.edu	37	10	123970013	123970013	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr10:123970013G>C	ENST00000369005.1	+	9	6413	c.6073G>C	c.(6073-6075)Gat>Cat	p.D2025H	TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000334433.3_Missense_Mutation_p.D2025H|TACC2_ENST00000360561.3_Missense_Mutation_p.D103H|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000453444.2_Missense_Mutation_p.D2029H|TACC2_ENST00000515273.1_Missense_Mutation_p.D2029H|TACC2_ENST00000369004.3_Missense_Mutation_p.D103H|TACC2_ENST00000260733.3_Missense_Mutation_p.D103H|TACC2_ENST00000513429.1_Missense_Mutation_p.D171H|TACC2_ENST00000358010.1_Missense_Mutation_p.D171H|TACC2_ENST00000368999.1_Missense_Mutation_p.D103H|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000515603.1_Missense_Mutation_p.D1980H	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2025						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.D2025H(2)|p.D2025N(1)		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)				TGCCGTCTTCGATGAAGACAA	0.552000													13	35					0	0	1	0	0
GPR35	2859	broad.mit.edu	37	2	241570284	241570284	+	Silent	SNP	C	C	T	rs142918765	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:241570284C>T	ENST00000319838.5	+	6	1857	c.915C>T	c.(913-915)tgC>tgT	p.C305C	GPR35_ENST00000438013.2_Silent_p.C336C|GPR35_ENST00000430267.1_Silent_p.C305C|GPR35_ENST00000407714.1_Silent_p.C305C|GPR35_ENST00000403859.1_Silent_p.C305C	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	305						integral to plasma membrane	G-protein coupled receptor activity	p.C305C(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		ACTCTCTGTGCGTGACCCTCG	0.642000													3	18					0	0	1	0	0
ARMC6	93436	broad.mit.edu	37	19	19154841	19154841	+	Silent	SNP	C	C	T	rs143674751	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:19154841C>T	ENST00000535612.1	+	4	669	c.237C>T	c.(235-237)gtC>gtT	p.V79V	ARMC6_ENST00000392335.2_Silent_p.V54V|ARMC6_ENST00000269932.6_Silent_p.V54V|ARMC6_ENST00000546344.1_Intron|ARMC6_ENST00000392336.3_Silent_p.V79V	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	79							protein binding	p.V79V(1)|p.V54V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CACCTAAAGTCTCTGCAGACG	0.572000													3	28					0	0	1	0	0
TMEM8C	389827	broad.mit.edu	37	9	136380685	136380685	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr9:136380685G>T	ENST00000339996.3	-	4	545	c.444C>A	c.(442-444)agC>agA	p.S148R	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	148						integral to membrane		p.S148R(2)		NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						GGGTGTAGACGCTCTTGTCTG	0.597000													14	31					6.72482e-11	7.29112e-11	1	1	0
TEX264	51368	broad.mit.edu	37	3	51718530	51718530	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:51718530C>T	ENST00000415259.1	+	3	1441	c.360C>T	c.(358-360)ttC>ttT	p.F120F	TEX264_ENST00000341333.5_Silent_p.F120F|TEX264_ENST00000463857.1_3'UTR|TEX264_ENST00000457573.1_Silent_p.F120F|TEX264_ENST00000416589.1_Silent_p.F120F|TEX264_ENST00000395057.1_Silent_p.F120F			Q9Y6I9	TX264_HUMAN	testis expressed 264	120						extracellular region		p.F120F(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		AATTTGGCTTCAAGGTGTTCT	0.592000													9	28					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110476724	110476724	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:110476724G>A	ENST00000378402.5	+	49	7767	c.7663G>A	c.(7663-7665)Gat>Aat	p.D2555N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2555					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.D2557N(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTTCTGAATGATGATGTGAC	0.443000										HNSCC(38;0.096)			27	137					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158489689	158489689	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:158489689C>T	ENST00000355585.4	+	13	1803	c.1728C>T	c.(1726-1728)agC>agT	p.S576S	SYNJ2_ENST00000367121.3_Silent_p.S576S|SYNJ2_ENST00000367122.2_Silent_p.S576S	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	576							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.S576S(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ATGACAGCAGCCCAGCTGACA	0.572000													3	42					0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14507264	14507264	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:14507264G>C	ENST00000242786.5	+	5	537	c.457G>C	c.(457-459)Gag>Cag	p.E153Q	CD97_ENST00000357355.3_Missense_Mutation_p.E153Q|CD97_ENST00000358600.3_Intron|CD97_ENST00000587728.1_Intron	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	153	EGF-like 3; calcium-binding (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.E153Q(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GTTCATACCTGAGGATCCGAA	0.597000													13	22					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1807188	1807188	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:1807188G>A	ENST00000539485.1	-	6	827	c.594C>T	c.(592-594)acC>acT	p.T198T	ATP8B3_ENST00000526092.1_Silent_p.T145T|ATP8B3_ENST00000525591.1_Silent_p.T145T|ATP8B3_ENST00000310127.6_Silent_p.T198T			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	198					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.T198T(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGTCCCGGGTGGCACGGA	0.652000													4	19					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25420074	25420074	+	RNA	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr15:25420074G>A	ENST00000441592.2	+	0	179				SNORD115-3_ENST00000363100.1_RNA																							GCCCTGGGTTGGGTCAATGAT	0.512000													20	88					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	58946004	58946004	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:58946004C>G	ENST00000589222.1	+	8	612	c.544C>G	c.(544-546)Caa>Gaa	p.Q182E	BCAS3_ENST00000390652.5_Missense_Mutation_p.Q182E|BCAS3_ENST00000588462.1_Missense_Mutation_p.Q182E|BCAS3_ENST00000407086.3_Missense_Mutation_p.Q182E|BCAS3_ENST00000408905.3_Missense_Mutation_p.Q182E			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	182						nucleus		p.Q182E(2)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CAAGTCCATTCAATTTAAGAC	0.373000													22	91					0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242271010	242271010	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:242271010G>T	ENST00000442594.2	-	9	1435	c.926C>A	c.(925-927)gCg>gAg	p.A309E	PLD5_ENST00000427495.1_Missense_Mutation_p.A339E|PLD5_ENST00000536534.1_Missense_Mutation_p.A401E	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	401						integral to membrane	catalytic activity	p.A309E(2)|p.A401E(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AGTGCAAATCGCTTTAAGAGA	0.368000													75	269					2.43199e-30	2.80405e-30	1	1	0
NPPA	4878	broad.mit.edu	37	1	11907671	11907671	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:11907671C>G	ENST00000376480.3	-	1	169	c.71G>C	c.(70-72)aGa>aCa	p.R24T	NPPA_ENST00000376476.1_Intron|NPPA-AS1_ENST00000446542.1_RNA|NPPA-AS1_ENST00000400892.2_RNA	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	24					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity	p.R24T(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGATTAGCTCTGGTCTGACC	0.562000													15	68					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453193	140453193	+	Splice_Site	SNP	T	T	C	rs121913370		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:140453193T>C	ENST00000288602.6	-	15	1802	c.1741_splice	c.e15-1	p.N581_splice		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	581	Protein kinase.		N -> D (in CFC syndrome).|N -> S (in a colorectal adenocarcinoma sample; somatic mutation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.N581S(9)|p.N581I(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	AAGAAATATATCTGAGGTGTA	0.358000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				38	64					0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27389919	27389919	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:27389919G>A	ENST00000379214.4	-	18	2794	c.2351C>T	c.(2350-2352)tCt>tTt	p.S784F	LGR4_ENST00000389858.4_Missense_Mutation_p.S760F	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	784						integral to membrane|plasma membrane	protein-hormone receptor activity	p.S784F(2)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CAGAGTAACAGACTTCATTAT	0.403000													12	65					0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7045360	7045360	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:7045360C>G	ENST00000356654.4	+	5	1167	c.930C>G	c.(928-930)ctC>ctG	p.L310L	ATN1_ENST00000396684.2_Silent_p.L310L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	310					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	p.L310L(2)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGAGACCCCTCAACAATGCAT	0.637000													10	91					0	0	1	0	0
COG3	83548	broad.mit.edu	37	13	46056606	46056606	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr13:46056606C>T	ENST00000349995.5	+	6	827	c.715C>T	c.(715-717)Cat>Tat	p.H239Y		NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	239					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity	p.H239Y(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		TATCTCATCTCATGTAAGTCA	0.328000													3	21					0	0	1	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46120223	46120223	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:46120223C>T	ENST00000355105.3	-	6	1829	c.469G>A	c.(469-471)Gag>Aag	p.E157K	GPBP1L1_ENST00000290795.3_Missense_Mutation_p.E157K	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.E157K(2)	GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					ACAAAGTCCTCCTCTTCAAAC	0.388000													16	153					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505844	195505844	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:195505844T>A	ENST00000463781.3	-	2	13066	c.12607A>T	c.(12607-12609)Aca>Tca	p.T4203S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T4203S|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	966					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCGTGACCTGTGGATGCTGAG	0.597000													2	1					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215919366	215919366	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:215919366T>A	ENST00000272895.7	-	4	559	c.340A>T	c.(340-342)Aac>Tac	p.N114Y		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	114					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.N114Y(2)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTATCCAGGTTGGATGACTTT	0.393000													53	388					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768409	31768409	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:31768409C>A	ENST00000240587.4	-	2	2617	c.2290G>T	c.(2290-2292)Gcc>Tcc	p.A764S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	764					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A581S(2)|p.A764S(2)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGCGGGGTGGCCACAGCAGCC	0.602000													18	166					6.12954e-19	6.88737e-19	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48349715	48349715	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:48349715G>C	ENST00000435803.1	+	24	9517	c.9493G>C	c.(9493-9495)Gat>Cat	p.D3165H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3165					transport	integral to membrane	ATP binding|ATPase activity	p.D3165H(2)|p.D3110H(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCGAAACTTGGATGTGCGAGC	0.502000													52	388					0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53624648	53624648	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr13:53624648G>T	ENST00000219022.2	+	5	1353	c.1275G>T	c.(1273-1275)caG>caT	p.Q425H		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	425	Olfactomedin-like.				cell adhesion	extracellular space		p.Q425H(2)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ATACCAAGCAGTATAAACCAT	0.408000													20	133					7.33628e-21	8.3037e-21	1	1	0
PLCL1	5334	broad.mit.edu	37	2	198949863	198949863	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:198949863G>T	ENST00000428675.1	+	2	2020	c.1622G>T	c.(1621-1623)gGa>gTa	p.G541V	PLCL1_ENST00000437704.2_Missense_Mutation_p.G443V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	541	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.G541V(2)|p.G443V(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATTGTGAAAGGAAAGAAGTTG	0.388000													9	131					0.000442599	0.000455877	1	1	0
NIPAL4	348938	broad.mit.edu	37	5	156899773	156899773	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:156899773C>G	ENST00000311946.7	+	6	1322	c.1206C>G	c.(1204-1206)ttC>ttG	p.F402L	NIPAL4_ENST00000435489.2_Missense_Mutation_p.F383L|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	402						integral to membrane	receptor activity	p.F340L(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						TGGGCGTGTTCATGCTGCATG	0.547000													23	74					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211542708	211542708	+	Nonstop_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:211542708A>G	ENST00000233072.5	+	38	4698	c.4502A>G	c.(4501-4503)tAg>tGg	p.*1501W	CPS1_ENST00000430249.2_Nonstop_Mutation_p.*1507W|CPS1_ENST00000451903.2_Nonstop_Mutation_p.*1050W	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	0					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.*1501W(2)|p.*1507W(2)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AAAGCAGCATAGAGATGCAGA	0.433000													114	343					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62324310	62324310	+	Silent	SNP	C	C	T	rs12625047	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr20:62324310C>T	ENST00000318100.4	+	29	3632	c.2805C>T	c.(2803-2805)ctC>ctT	p.L935L	RTEL1_ENST00000370018.3_Silent_p.L935L|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.L935L|RTEL1_ENST00000360203.5_Silent_p.L935L|RTEL1_ENST00000508582.2_Silent_p.L959L|RTEL1_ENST00000370003.1_Silent_p.L180L			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	935					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCGCCTGTCTCGGCCCCCTCT	0.647000													5	3					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54914904	54914904	+	Splice_Site	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:54914904A>G	ENST00000293373.6	+	18	1839	c.1758_splice	c.e18-1	p.Y587_splice	NCKAP1L_ENST00000545638.2_Splice_Site_p.Y537_splice	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	587					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	p.Y587C(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TTCCCATAGTACCCCCACCTC	0.517000													29	120					0	0	1	0	0
ELOVL5	60481	broad.mit.edu	37	6	53156718	53156718	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:53156718G>A	ENST00000542638.1	-	3	549	c.102C>T	c.(100-102)ccC>ccT	p.P34P	ELOVL5_ENST00000304434.6_Silent_p.P34P|ELOVL5_ENST00000486973.1_5'UTR|ELOVL5_ENST00000541407.1_Silent_p.P34P|ELOVL5_ENST00000370918.4_Silent_p.P34P			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	34					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	p.P34P(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					AGATAAATGTGGGTATATAAT	0.318000													7	55					0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1238077	1238077	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:1238077A>C	ENST00000324642.3	+	5	757	c.634A>C	c.(634-636)Aca>Cca	p.T212P	SLC6A18_ENST00000296821.4_Missense_Mutation_p.T212P	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	212					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GATTTACTTCACAGCTTTGTT	0.512000													7	45					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26771546	26771546	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr22:26771546G>A	ENST00000529632.2	+	14	2996	c.2800G>A	c.(2800-2802)Gaa>Aaa	p.E934K	SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000343706.4_Missense_Mutation_p.E869K|SEZ6L_ENST00000360929.3_Missense_Mutation_p.E870K|SEZ6L_ENST00000411842.2_Intron|SEZ6L_ENST00000402979.1_Missense_Mutation_p.E717K|SEZ6L_ENST00000248933.6_Missense_Mutation_p.E945K|SEZ6L_ENST00000404234.3_Missense_Mutation_p.E944K|SEZ6L_ENST00000403121.1_Missense_Mutation_p.E641K	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	945						endoplasmic reticulum membrane|integral to membrane		p.E945K(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TTCAGTAGCAGAAGCGGCAGC	0.572000													15	40					0	0	1	0	0
DSTN	11034	broad.mit.edu	37	20	17581487	17581487	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr20:17581487C>T	ENST00000246069.6	+	2	454	c.108C>T	c.(106-108)gtC>gtT	p.V36V	DSTN_ENST00000543261.1_Silent_p.V19V|DSTN_ENST00000474024.1_3'UTR	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	36	ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding	p.V36V(2)		endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AGAAGGCTGTCATTTTTTGTC	0.393000													14	51					0	0	1	0	0
SEPT10	151011	broad.mit.edu	37	2	110301779	110301779	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:110301779A>C	ENST00000356688.4	-	12	1870	c.1555T>G	c.(1555-1557)Ttt>Gtt	p.F519V	SEPT10_ENST00000397712.2_3'UTR|SEPT10_ENST00000397714.2_3'UTR|SEPT10_ENST00000334001.6_3'UTR			Q9P0V9	SEP10_HUMAN	septin 10	0					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						TGTTCACCAAATATAGAAGTG	0.338000													6	3					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70351937	70351937	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:70351937C>G	ENST00000333646.6	+	30	4333	c.4134C>G	c.(4132-4134)ctC>ctG	p.L1378L	MED12_ENST00000374080.3_Silent_p.L1378L|MED12_ENST00000374102.1_Silent_p.L1378L|MED12_ENST00000478889.1_Intron	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1378					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.L1378L(4)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGAACTCCCTCTTGGAGAACA	0.512000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						52	104					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185169074	185169074	+	Splice_Site	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:185169074G>A	ENST00000265026.3	+	7	1503		c.e7-1		MAP3K13_ENST00000446828.1_Splice_Site|MAP3K13_ENST00000424227.1_Splice_Site|MAP3K13_ENST00000443863.1_Splice_Site|MAP3K13_ENST00000535426.1_Splice_Site	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13						activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	p.?(4)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TTCACTTTTAGGCAGAGTAAA	0.383000													33	89					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130789733	130789733	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:130789733C>T	ENST00000276708.4	-	2	982	c.101G>A	c.(100-102)cGt>cAt	p.R34H		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	34						mitochondrion		p.R34H(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						AACAAACTGACGTAATTTGGT	0.403000													57	337					0	0	1	0	0
PCMTD2	55251	broad.mit.edu	37	20	62896764	62896764	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr20:62896764C>T	ENST00000308824.6	+	4	691	c.564C>T	c.(562-564)gtC>gtT	p.V188V	PCMTD2_ENST00000369758.3_Silent_p.V188V|PCMTD2_ENST00000299468.7_Silent_p.V188V	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	188						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	p.V188V(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGATCCTTGTCATGCCACTGG	0.468000													28	119					0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66358453	66358453	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:66358453C>T	ENST00000333861.3	-	1	2101	c.2034G>A	c.(2032-2034)ctG>ctA	p.L678L		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	678								p.L678L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TCTGCAGGCTCAGAATTTTGT	0.532000													5	8					0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158549566	158549566	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:158549566A>T	ENST00000368150.1	-	1	123	c.124T>A	c.(124-126)Ttt>Att	p.F42I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F42I(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ACAAAAAGAAATGTCTGTACA	0.418000													62	230					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113246694	113246694	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:113246694C>A	ENST00000297405.5	-	68	10884	c.10640G>T	c.(10639-10641)aGc>aTc	p.S3547I	CSMD3_ENST00000455883.2_Missense_Mutation_p.S3378I|CSMD3_ENST00000352409.3_Missense_Mutation_p.S3477I|CSMD3_ENST00000343508.3_Missense_Mutation_p.S3507I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3547						integral to membrane|plasma membrane		p.S3547I(2)|p.S3507I(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGCTTCCTGGCTTTTATATAC	0.323000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			23	168					1.16021e-09	1.24914e-09	1	1	0
ZNF546	339327	broad.mit.edu	37	19	40519640	40519640	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:40519640C>G	ENST00000347077.4	+	7	679	c.463C>G	c.(463-465)Caa>Gaa	p.Q155E	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.Q129E	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q155E(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTATTTATCTCAATTGCAGAC	0.313000													14	159					0	0	1	0	0
ZNF668	79759	broad.mit.edu	37	16	31073109	31073109	+	Silent	SNP	C	C	T	rs144972780	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:31073109C>T	ENST00000538906.1	-	3	1924	c.1140G>A	c.(1138-1140)acG>acA	p.T380T	ZNF668_ENST00000539836.3_Silent_p.T403T|ZNF668_ENST00000426488.2_Silent_p.T403T|ZNF668_ENST00000417110.2_Silent_p.F99F|ZNF668_ENST00000394983.2_Silent_p.T380T|ZNF668_ENST00000300849.4_Silent_p.T380T|ZNF668_ENST00000535577.1_Silent_p.T380T	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T380T(2)|p.T403T(2)		breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GGCTATGCTTCGTGAGGCTGG	0.672000													17	166					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121680889	121680889	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:121680889C>G	ENST00000393386.2	+	21	6068	c.5657C>G	c.(5656-5658)cCc>cGc	p.P1886R	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.P1019R	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1886	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.P1886R(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AAAGGAAGACCCAGTGGACGT	0.512000													31	117					0	0	1	0	0
FRMD8	83786	broad.mit.edu	37	11	65154527	65154527	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:65154527G>T	ENST00000317568.5	+	2	183	c.20G>T	c.(19-21)aGt>aTt	p.S7I	FRMD8_ENST00000416776.2_Missense_Mutation_p.S7I|FRMD8_ENST00000531296.1_Missense_Mutation_p.S7I|FRMD8_ENST00000355991.5_Missense_Mutation_p.S7I	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	7						cytoskeleton	binding	p.S7I(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						ACAGAAGGCAGTGCCGGGCAG	0.657000													13	29					4.93089e-13	5.403e-13	1	1	0
SLC39A12	221074	broad.mit.edu	37	10	18292133	18292133	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr10:18292133C>G	ENST00000377369.2	+	12	2066	c.1793C>G	c.(1792-1794)tCt>tGt	p.S598C	SLC39A12_ENST00000377371.3_Missense_Mutation_p.S597C|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S561C|SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12_ENST00000539911.1_Missense_Mutation_p.S464C|SLC39A12-AS1_ENST00000445287.1_RNA	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	598					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.S561C(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCTGGACTTTCTATGAAGACT	0.408000													23	137					0	0	1	0	0
CCDC146	57639	broad.mit.edu	37	7	76889471	76889471	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:76889471G>C	ENST00000285871.4	+	8	1031	c.904G>C	c.(904-906)Gaa>Caa	p.E302Q	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Missense_Mutation_p.E48Q	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	302								p.E302Q(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AGCCTTACTTGAAATCAAAGA	0.348000													68	139					0	0	1	0	0
MOCS3	27304	broad.mit.edu	37	20	49575979	49575979	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr20:49575979C>T	ENST00000244051.1	+	1	617	c.600C>T	c.(598-600)ctC>ctT	p.L200L		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	200					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	p.L200L(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						GTCGGCCCCTCGTGTCTGCCA	0.602000													10	46					0	0	1	0	0
C16orf45	89927	broad.mit.edu	37	16	15677017	15677017	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:15677017C>A	ENST00000300006.4	+	5	783	c.424C>A	c.(424-426)Caa>Aaa	p.Q142K	C16orf45_ENST00000565913.1_3'UTR|C16orf45_ENST00000452191.2_Missense_Mutation_p.Q125K|C16orf45_ENST00000566490.1_Intron|C16orf45_ENST00000561692.1_Missense_Mutation_p.Q94K	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	142								p.Q142K(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						TCACAGGGAGCAAGAAGAAGA	0.378000													33	238					3.61848e-18	4.05112e-18	1	1	0
IGSF22	283284	broad.mit.edu	37	11	18735942	18735942	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:18735942C>T	ENST00000513874.1	-	13	1819	c.1680G>A	c.(1678-1680)caG>caA	p.Q560Q	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	560								p.Q560Q(4)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GCTTCACAATCTGCATGCCTG	0.597000													8	64					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222842	140222842	+	Missense_Mutation	SNP	C	C	T	rs146582216		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:140222842C>T	ENST00000531613.1	+	1	1936	c.1936C>T	c.(1936-1938)Cgt>Tgt	p.R646C	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R646C	NM_018911.2	NP_061734.1												p.R646C(4)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGCGCCACCGTCTGCTGGT	0.662000													13	164					0	0	1	0	0
TRIM7	81786	broad.mit.edu	37	5	180622504	180622504	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:180622504C>G	ENST00000393315.1	-	7	1271	c.574G>C	c.(574-576)Gag>Cag	p.E192Q	TRIM7_ENST00000393319.3_Missense_Mutation_p.E218Q|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000361809.3_Missense_Mutation_p.E192Q|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000422067.2_Missense_Mutation_p.E192Q|TRIM7_ENST00000274773.7_Missense_Mutation_p.E400Q	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	400						cytoplasm|nucleus	zinc ion binding	p.E400Q(2)		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)		ACCTCCACCTCCCAGTGATGC	0.716000													4	12					0	0	1	0	0
GDAP2	54834	broad.mit.edu	37	1	118420645	118420645	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:118420645C>T	ENST00000369443.4	-	13	1681	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	GDAP2_ENST00000369442.3_Missense_Mutation_p.E478K	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	478	CRAL-TRIO.							p.E478K(2)		kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		GCATCATATTCAAGGACAAAA	0.453000													15	139					0	0	1	0	0
C2orf47	79568	broad.mit.edu	37	2	200824033	200824033	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:200824033G>C	ENST00000295079.2	+	3	815	c.493G>C	c.(493-495)Gat>Cat	p.D165H	C2orf47_ENST00000469156.1_3'UTR|C2orf47_ENST00000392290.1_Missense_Mutation_p.D165H	NM_024520.2	NP_078796.2	Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	165						mitochondrion		p.D165H(2)		cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						GTGTAAATTTGATCTGTTGGA	0.323000													8	59					0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107845160	107845160	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr4:107845160T>C	ENST00000285311.3	-	4	1436	c.731A>G	c.(730-732)gAt>gGt	p.D244G	DKK2_ENST00000513208.1_Missense_Mutation_p.D144G|DKK2_ENST00000510463.1_Missense_Mutation_p.D198G	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	244	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		p.D244G(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GTAGGTGGCATCTTTCCATAC	0.458000													36	326					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61538783	61538783	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:61538783G>C	ENST00000398571.2	-	27	3785	c.3709C>G	c.(3709-3711)Ctt>Gtt	p.L1237V		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1237					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.L1237V(2)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCAGCCCTAAGATCTGCTACC	0.353000													8	83					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423835	56423835	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:56423835G>C	ENST00000588751.1	-	5	1372	c.1348C>G	c.(1348-1350)Cag>Gag	p.Q450E	NLRP13_ENST00000342929.3_Missense_Mutation_p.Q450E			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	450	NACHT.						ATP binding	p.Q450E(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GTGGTAGTCTGAGTGATTGAC	0.502000													33	162					0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32844370	32844370	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:32844370C>G	ENST00000311921.3	+	2	826	c.634C>G	c.(634-636)Cca>Gca	p.P212A	ZNF507_ENST00000355898.5_Missense_Mutation_p.P212A|ZNF507_ENST00000544431.1_Missense_Mutation_p.P212A|ZNF507_ENST00000587084.1_3'UTR	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P212A(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TGAAACCATTCCAGATATCCC	0.453000													26	129					0	0	1	0	0
GARS	2617	broad.mit.edu	37	7	30661020	30661020	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:30661020G>A	ENST00000389266.3	+	11	1612	c.1371G>A	c.(1369-1371)gaG>gaA	p.E457E		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	457					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	p.E457E(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GTTGGATTGAGATTGTTGGAT	0.368000													48	235					0	0	1	0	0
POLK	51426	broad.mit.edu	37	5	74880722	74880722	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:74880722C>T	ENST00000241436.4	+	9	1369	c.1197C>T	c.(1195-1197)tcC>tcT	p.S399S	POLK_ENST00000504026.1_Silent_p.S399S|POLK_ENST00000380481.3_Silent_p.S309S|POLK_ENST00000352007.5_Intron|POLK_ENST00000515295.1_Silent_p.S399S|POLK_ENST00000508526.1_Intron|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	399					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	p.S399S(4)		endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TTCATATCTCCTTGGGTCTAG	0.388000								DNA polymerases (catalytic subunits)					10	190					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2807567	2807567	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:2807567G>A	ENST00000301740.8	+	3	886	c.337G>A	c.(337-339)Ggg>Agg	p.G113R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	113						Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	p.G113R(1)		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						GGAGACCCCAGGGCAGAGGCC	0.567000													15	100					0	0	1	0	0
UBAP2	55833	broad.mit.edu	37	9	33963754	33963754	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr9:33963754G>C	ENST00000379238.1	-	9	832	c.715C>G	c.(715-717)Ctg>Gtg	p.L239V	UBAP2_ENST00000360802.1_Missense_Mutation_p.L239V|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000449054.1_Missense_Mutation_p.L239V|UBAP2_ENST00000379239.4_De_novo_Start_InFrame|UBAP2_ENST00000418786.2_Missense_Mutation_p.L186V			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	239								p.L239V(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TTGTTTGACAGATCCTGAGCT	0.284000													12	104					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240497523	240497523	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:240497523T>G	ENST00000319653.9	+	13	4989	c.4759T>G	c.(4759-4761)Ttg>Gtg	p.L1587V	FMN2_ENST00000545751.1_Missense_Mutation_p.L183V	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1587	FH2.				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	p.L1730V(2)		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)			GAAGAAAGACTTGAAAGGTAA	0.353000													19	314					0	0	1	0	0
SBSN	374897	broad.mit.edu	37	19	36017721	36017721	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:36017721C>A	ENST00000452271.2	-	1	1491	c.1463G>T	c.(1462-1464)gGg>gTg	p.G488V	SBSN_ENST00000518157.1_Missense_Mutation_p.G145V	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	145						extracellular region		p.G488V(2)|p.G145V(2)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGCTTCCTTCCCAGCCTGGTG	0.597000													9	56					1.58986e-06	1.68242e-06	1	1	0
GPATCH1	55094	broad.mit.edu	37	19	33581687	33581687	+	Splice_Site	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:33581687A>G	ENST00000170564.2	+	3	524	c.208_splice	c.e3-1	p.G70_splice		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	70						catalytic step 2 spliceosome	nucleic acid binding	p.G70G(2)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TTTTTTCAGGATGGACACCCT	0.373000													5	78					0	0	1	0	0
LGALS9	3965	broad.mit.edu	37	17	25967714	25967714	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:25967714G>T	ENST00000395473.2	+	3	1716	c.248G>T	c.(247-249)gGg>gTg	p.G83V	LGALS9_ENST00000310394.5_Missense_Mutation_p.G83V|LGALS9_ENST00000302228.5_Missense_Mutation_p.G83V|AC015688.3_ENST00000584605.1_3'UTR|LGALS9_ENST00000313648.6_Missense_Mutation_p.G83V|LGALS9_ENST00000413914.2_Missense_Mutation_p.G26V|LGALS9_ENST00000448970.2_3'UTR	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	83	Beta-galactoside binding 1.|Galectin 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	p.G83V(2)		endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GGAAGCTGGGGGCCCGAGGAG	0.547000													40	110					1.19451e-25	1.36201e-25	1	1	0
GCAT	23464	broad.mit.edu	37	22	38211697	38211697	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr22:38211697T>C	ENST00000323205.6	+	7	983	c.920T>C	c.(919-921)cTg>cCg	p.L307P	GCAT_ENST00000248924.6_Missense_Mutation_p.L281P	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	281					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.L281P(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CCTGGGCCCCTGGTGTCCCTG	0.652000													5	26					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137225	40137225	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:40137225C>A	ENST00000278198.2	-	2	2581	c.618G>T	c.(616-618)atG>atT	p.M206I	LRRC4C_ENST00000530763.1_Missense_Mutation_p.M206I|LRRC4C_ENST00000527150.1_Missense_Mutation_p.M206I|LRRC4C_ENST00000528697.1_Missense_Mutation_p.M206I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	206					regulation of axonogenesis	integral to membrane	protein binding	p.M206I(2)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAAGGTTGCACATGGCAAGGT	0.463000													12	95					0.000219431	0.000229069	1	1	0
CD59	966	broad.mit.edu	37	11	33743968	33743968	+	Silent	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:33743968G>C	ENST00000395850.3	-	2	99	c.24C>G	c.(22-24)gtC>gtG	p.V8V	CD59_ENST00000415002.2_Silent_p.V8V|CD59_ENST00000528700.1_Silent_p.V8V|CD59_ENST00000426650.2_Silent_p.V8V|CD59_ENST00000534312.1_Silent_p.V8V|CD59_ENST00000527577.1_Silent_p.V8V|CD59_ENST00000533403.1_Silent_p.V8V|CD59_ENST00000437761.2_Silent_p.V8V|CD59_ENST00000445143.2_Silent_p.V8V|CD59_ENST00000351554.3_Silent_p.V8V	NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2	NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1	P13987	CD59_HUMAN	CD59 molecule, complement regulatory protein	8					blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction		p.V8V(2)		endometrium(1)|lung(2)	3						GCCCGAACAGGACAGACCCTC	0.537000													16	70					0	0	1	0	0
IWS1	55677	broad.mit.edu	37	2	128263325	128263325	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:128263325C>A	ENST00000295321.4	-	3	413	c.154G>T	c.(154-156)Gaa>Taa	p.E52*	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Nonsense_Mutation_p.E59*|IWS1_ENST00000486662.1_5'UTR	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	52					transcription, DNA-dependent	nucleus	DNA binding	p.E52*(2)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TCACTAGTTTCATTCTGAAAA	0.308000													11	71					0.00829132	0.00842769	1	1	0
ACTN2	88	broad.mit.edu	37	1	236908017	236908017	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:236908017C>G	ENST00000366578.4	+	12	1513	c.1347C>G	c.(1345-1347)agC>agG	p.S449R	ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.S449R	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	449					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	p.S449R(2)		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)			CGTTCGAGAGCGACCTGGCAG	0.642000													21	53					0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94248517	94248517	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:94248517C>G	ENST00000515393.1	-	9	1514	c.1515G>C	c.(1513-1515)aaG>aaC	p.K505N	MCTP1_ENST00000429576.2_Missense_Mutation_p.K238N|MCTP1_ENST00000505078.1_Missense_Mutation_p.K21N|MCTP1_ENST00000312216.8_Missense_Mutation_p.K284N|MCTP1_ENST00000505208.1_Missense_Mutation_p.K284N	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	505	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.K505N(2)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTACCTTGCTCTTGTACTTCT	0.458000													35	165					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	416901	416901	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:416901G>A	ENST00000399788.2	-	23	4011	c.3649C>T	c.(3649-3651)Cgg>Tgg	p.R1217W	KDM5A_ENST00000382815.4_Missense_Mutation_p.R1217W	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1217					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1217W(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CTTCGAGACCGCATACAAAGA	0.483000			T	NUP98	AML								5	101					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068944	9068944	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:9068944C>G	ENST00000397910.4	-	3	18705	c.18502G>C	c.(18502-18504)Ggc>Cgc	p.G6168R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6170	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G6168R(4)|p.G1801R(2)		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						GTCAGTTGGCCAAGAGATGTC	0.488000													73	204					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38790666	38790666	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:38790666G>T	ENST00000359357.3	+	25	3179	c.2925G>T	c.(2923-2925)ggG>ggT	p.G975G	DNAH8_ENST00000449981.2_Silent_p.G1192G|DNAH8_ENST00000441566.1_Silent_p.G975G					dynein, axonemal, heavy chain 8									p.G975G(4)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTACCCGGGGGTAGCGGAGC	0.413000													4	32					0.00909568	0.00921497	1	1	0
CCDC60	160777	broad.mit.edu	37	12	119916949	119916949	+	Missense_Mutation	SNP	G	G	A	rs144234053		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:119916949G>A	ENST00000327554.2	+	4	857	c.392G>A	c.(391-393)cGc>cAc	p.R131H	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	131								p.R131H(3)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GTCACACGTCGCCCATTCACT	0.473000													42	316					0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114438396	114438396	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:114438396G>T	ENST00000369569.1	-	9	2055	c.1775C>A	c.(1774-1776)tCa>tAa	p.S592*	AP4B1_ENST00000369567.1_Nonsense_Mutation_p.S424*|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000256658.4_Nonsense_Mutation_p.S592*	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	592					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	p.S592*(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCAAAGGATGAAGTTTTAGG	0.443000													22	115					1.64293e-13	1.80664e-13	1	1	0
LGALS17A	400696	broad.mit.edu	37	19	40172135	40172135	+	RNA	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:40172135G>A	ENST00000412609.1	+	0	124																											CAGGGACACCGATCATCCCTT	0.532000													22	729					0	0	1	0	0
EML2	24139	broad.mit.edu	37	19	46116895	46116895	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:46116895G>C	ENST00000536630.1	-	21	2307	c.2169C>G	c.(2167-2169)atC>atG	p.I723M	EML2_ENST00000589876.1_Missense_Mutation_p.I576M|EML2_ENST00000245925.3_Missense_Mutation_p.I576M|EML2_ENST00000587152.1_Missense_Mutation_p.I777M	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	576					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	p.I576M(2)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CCACAGCGTTGATATCAGTGC	0.567000													6	115					0	0	1	0	0
PTBP3	9991	broad.mit.edu	37	9	115024748	115024748	+	Silent	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr9:115024748G>C	ENST00000334318.6	-	6	762	c.576C>G	c.(574-576)ctC>ctG	p.L192L	PTBP3_ENST00000374257.1_Silent_p.L161L|PTBP3_ENST00000458258.1_Silent_p.L195L|PTBP3_ENST00000374255.2_Silent_p.L189L|PTBP3_ENST00000343327.2_Silent_p.L94L|PTBP3_ENST00000487997.1_5'UTR	NM_001163790.2|NM_005156.6	NP_001157262.1|NP_005147.3	O95758	ROD1_HUMAN	polypyrimidine tract binding protein 3	189	RRM 2.				anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding	p.L189L(2)									CAGGGTAAAAGAGGTTTTCAA	0.433000													32	121					0	0	1	0	0
PREPL	9581	broad.mit.edu	37	2	44569580	44569580	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:44569580C>T	ENST00000541738.1	-	5	847	c.461G>A	c.(460-462)cGc>cAc	p.R154H	PREPL_ENST00000409936.1_Missense_Mutation_p.R243H|PREPL_ENST00000409957.1_Missense_Mutation_p.R154H|PREPL_ENST00000410081.1_Missense_Mutation_p.R243H|PREPL_ENST00000378520.3_Missense_Mutation_p.R243H|PREPL_ENST00000378511.3_Missense_Mutation_p.R243H|PREPL_ENST00000409411.1_Missense_Mutation_p.R154H|PREPL_ENST00000260648.6_Missense_Mutation_p.R243H|PREPL_ENST00000409272.1_Missense_Mutation_p.R243H	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	243					proteolysis	cytosol	serine-type endopeptidase activity	p.R243H(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGTGTAAAAGCGTTCATTACG	0.378000													39	105					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37396654	37396654	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:37396654G>T	ENST00000361924.2	+	22	7013	c.6639G>T	c.(6637-6639)ttG>ttT	p.L2213F	GOLGA4_ENST00000356847.4_Missense_Mutation_p.L2228F|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2213	GRIP.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	p.L2213_E2214>F*(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGAAAATTTTGGAAAGAGAAG	0.388000													39	230					1.0096e-33	1.17281e-33	1	1	0
MACF1	23499	broad.mit.edu	37	1	39797800	39797800	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:39797800C>T	ENST00000564288.1	+	37	6317	c.5540C>T	c.(5539-5541)tCa>tTa	p.S1847L	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.S1884L|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S287L|MACF1_ENST00000372915.3_Missense_Mutation_p.S1852L|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1852					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.S287L(2)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCCTCTGGTCATTCATGGGG	0.463000													47	174					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78583831	78583831	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:78583831G>T	ENST00000397909.2	+	34	6296	c.6123G>T	c.(6121-6123)agG>agT	p.R2041S	NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000228327.6_Missense_Mutation_p.R2019S|NAV3_ENST00000266692.7_Missense_Mutation_p.R1842S|NAV3_ENST00000536525.2_Missense_Mutation_p.R2019S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2041						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.R2019S(2)		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						TTACCCAAAGGTACTTTAACT	0.348000										HNSCC(70;0.22)			17	229					1.33834e-09	1.43592e-09	1	1	0
OR6T1	219874	broad.mit.edu	37	11	123814524	123814524	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:123814524G>A	ENST00000321252.2	-	1	56	c.22C>T	c.(22-24)Cag>Tag	p.Q8*		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q8*(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		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;0.0401)		CTTGTTACCTGAGTCCAGTTT	0.463000													10	316					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1133330	1133330	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:1133330C>T	ENST00000308624.5	+	5	477	c.348C>T	c.(346-348)ttC>ttT	p.F116F	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	116	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	p.F116F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GGATGTTGTTCGTAGGAGATG	0.378000													5	65					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98497313	98497313	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:98497313G>A	ENST00000359863.4	+	10	932	c.723G>A	c.(721-723)ctG>ctA	p.L241L	TRRAP_ENST00000446306.3_Silent_p.L241L|TRRAP_ENST00000355540.3_Silent_p.L241L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	241					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.L241L(4)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCTACAAACTGAACATCCACA	0.443000													67	147					0	0	1	0	0
RUFY1	80230	broad.mit.edu	37	5	178996340	178996340	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:178996340G>A	ENST00000377001.2	+	5	742	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	RUFY1_ENST00000437570.2_Missense_Mutation_p.E140K|RUFY1_ENST00000393438.2_Missense_Mutation_p.E140K|RUFY1_ENST00000319449.4_Missense_Mutation_p.E248K			Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	248	RUN.				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	p.E140K(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGGAGGAAGAAGGGATGGT	0.478000										HNSCC(44;0.11)			24	219					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45267266	45267266	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:45267266T>A	ENST00000303230.4	-	7	1765	c.1708A>T	c.(1708-1710)Aac>Tac	p.N570Y		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	570						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.N570Y(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGGACCTCGTTGAAATTGTCC	0.433000													11	233					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181480642	181480642	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:181480642A>G	ENST00000526775.1	+	3	673	c.508A>G	c.(508-510)Agt>Ggt	p.S170G	CACNA1E_ENST00000360108.3_Missense_Mutation_p.S170G|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S121G|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S170G|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S170G|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S121G	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	170					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.S170G(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGTGGTCCTCAGTGGGTAAGT	0.522000													54	247					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	166958699	166958699	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:166958699C>T	ENST00000392766.2	-	21	2625	c.2285G>A	c.(2284-2286)gGa>gAa	p.G762E	ZBBX_ENST00000392764.1_Missense_Mutation_p.G733E|ZBBX_ENST00000307529.5_Missense_Mutation_p.G801E|ZBBX_ENST00000455345.2_Missense_Mutation_p.G801E|ZBBX_ENST00000392767.2_Missense_Mutation_p.G762E	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	762						intracellular	zinc ion binding	p.G801E(2)|p.G762E(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GGTATCTCTTCCAGAACAGCT	0.378000													28	125					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90857737	90857737	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr4:90857737C>A	ENST00000394980.1	+	7	3225	c.2906C>A	c.(2905-2907)cCa>cAa	p.P969Q	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.P969Q|MMRN1_ENST00000508372.1_Missense_Mutation_p.P711Q			Q13201	MMRN1_HUMAN	multimerin 1	969					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.P969Q(2)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTTGTGGAACCAATAATTCAA	0.383000													4	43					0.150653	0.151635	1	1	0
TTC23	64927	broad.mit.edu	37	15	99696503	99696503	+	Splice_Site	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr15:99696503C>T	ENST00000394132.2	-	12	1811		c.e12-1		TTC23_ENST00000394130.1_Splice_Site|TTC23_ENST00000558613.1_Splice_Site|TTC23_ENST00000558663.1_Splice_Site|TTC23_ENST00000394136.1_Splice_Site|TTC23_ENST00000394129.2_Splice_Site|TTC23_ENST00000262074.4_Splice_Site|TTC23_ENST00000394135.3_Splice_Site			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23								binding	p.?(2)		endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			AGGTTGCTCTCTGTGAAAGGA	0.488000													20	57					0	0	1	0	0
KLHL15	80311	broad.mit.edu	37	X	24006555	24006555	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:24006555C>G	ENST00000328046.8	-	4	1553	c.1298G>C	c.(1297-1299)gGa>gCa	p.G433A		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	433								p.G433A(2)		autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						TGAGGTGATTCCACCGGTGAT	0.453000													66	101					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18430067	18430067	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:18430067G>A	ENST00000440756.2	-	14	2863	c.2761C>T	c.(2761-2763)Ctg>Ttg	p.L921L	PSD3_ENST00000428502.2_Silent_p.L248L|PSD3_ENST00000286485.8_Silent_p.L385L|PSD3_ENST00000327040.8_Silent_p.L919L|PSD3_ENST00000523619.1_Silent_p.L854L			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	920					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.L921L(2)|p.L385L(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GTGGCAGGCAGAAGTGGGCGG	0.408000													40	180					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	146997641	146997641	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:146997641G>C	ENST00000265272.5	-	19	2646	c.2179C>G	c.(2179-2181)Cta>Gta	p.L727V	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.L706V|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.L685V	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	727						Golgi apparatus		p.L727V(2)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTGCTGTAGAGCATTGTAC	0.408000													71	296					0	0	1	0	0
UQCRQ	27089	broad.mit.edu	37	5	132203218	132203218	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:132203218G>C	ENST00000378670.3	+	3	334	c.193G>C	c.(193-195)Gaa>Caa	p.E65Q	UQCRQ_ENST00000496429.1_3'UTR|UQCRQ_ENST00000378667.1_Missense_Mutation_p.E65Q|UQCRQ_ENST00000378665.1_Missense_Mutation_p.E65Q	NM_014402.4	NP_055217.2	O14949	QCR8_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa	65					respiratory electron transport chain	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity	p.E65Q(2)		lung(3)	3		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGGGGGACTGAAGAGTTCGA	0.388000													7	34					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152295239	152295239	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:152295239G>A	ENST00000243326.4	+	13	2008	c.1525G>A	c.(1525-1527)Gtg>Atg	p.V509M	RIF1_ENST00000430328.2_Missense_Mutation_p.V509M|RIF1_ENST00000453091.2_Missense_Mutation_p.V509M|RIF1_ENST00000444746.2_Missense_Mutation_p.V509M|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000428287.2_Missense_Mutation_p.V509M			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	509					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	p.V509M(2)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AATTAGCTTGGTGAAGTCAGT	0.348000													18	53					0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127420138	127420138	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:127420138C>T	ENST00000262461.2	+	1	681	c.492C>T	c.(490-492)gtC>gtT	p.V164V	SLC12A2_ENST00000343225.4_Silent_p.V164V	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	164					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	p.V164V(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGGTCGGAGTCGACGGGCCCA	0.701000													5	6					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55703100	55703100	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:55703100G>A	ENST00000376350.3	-	11	2289	c.2267C>T	c.(2266-2268)gCc>gTc	p.A756V	PTPRH_ENST00000263434.5_Missense_Mutation_p.A578V	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	756					apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.A756V(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AAAGGCTCCGGCAATGACCCC	0.602000													3	34					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79933747	79933747	+	Splice_Site	SNP	T	T	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr14:79933747T>G	ENST00000281127.7	+	2	1308		c.e2+2		NRXN3_ENST00000556003.1_Splice_Site|NRXN3_ENST00000557594.1_Splice_Site|NRXN3_ENST00000554719.1_Splice_Site|NRXN3_ENST00000335750.5_Splice_Site|NRXN3_ENST00000428277.2_Splice_Site	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3						angiogenesis|cell adhesion	integral to membrane		p.?(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTTCACATAGTGAGTACAGGG	0.512000													12	115					0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133099400	133099400	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:133099400G>A	ENST00000515826.1	+	3	968	c.845G>A	c.(844-846)aGa>aAa	p.R282K	TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000321871.6_Missense_Mutation_p.R282K|TMEM108_ENST00000393130.3_Missense_Mutation_p.R282K			Q6UXF1	TM108_HUMAN	transmembrane protein 108	282						integral to membrane		p.R282K(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCCTTCGCAGAGCAGCCCAG	0.647000													5	38					0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187149394	187149394	+	Silent	SNP	T	T	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr4:187149394T>A	ENST00000264690.6	+	2	232	c.45T>A	c.(43-45)gcT>gcA	p.A15A	KLKB1_ENST00000513864.1_Silent_p.A15A	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	15					blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	p.A15A(4)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CCTTGTTTGCTACAGTTTCCT	0.353000													4	43					0	0	1	0	0
CETN1	1068	broad.mit.edu	37	18	580703	580703	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr18:580703G>A	ENST00000327228.3	+	1	337	c.295G>A	c.(295-297)Gag>Aag	p.E99K		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	99	EF-hand 2.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	p.E99K(2)		breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GAAGATGTCCGAGAAGGACAC	0.507000													4	86					0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56183268	56183268	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:56183268C>G	ENST00000399503.3	+	18	4178	c.4178C>G	c.(4177-4179)gCc>gGc	p.A1393G		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1393	Protein kinase.				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	p.A1230G(2)|p.A1393G(2)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GGAGCTGCAGCCAGGTTGGCA	0.443000													34	227					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123870875	123870875	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:123870875G>T	ENST00000422452.2	-	4	771	c.708C>A	c.(706-708)acC>acA	p.T236T	TENM1_ENST00000371130.3_Silent_p.T236T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.T238T(2)									CCTGCGTGCTGGTTGGGGGAG	0.557000													44	258					6.27289e-28	7.20566e-28	1	1	0
ISG20L2	81875	broad.mit.edu	37	1	156697208	156697208	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:156697208C>A	ENST00000313146.6	-	1	1019	c.237G>T	c.(235-237)aaG>aaT	p.K79N	ISG20L2_ENST00000368219.1_Missense_Mutation_p.K79N	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	79					ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding	p.K79N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGCTGTCTTCTTTTTTGGGA	0.522000											OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	31					0.004672	0.00476451	1	1	0
SLC1A2	6506	broad.mit.edu	37	11	35302424	35302424	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:35302424C>T	ENST00000278379.3	-	9	1693	c.1411G>A	c.(1411-1413)Gac>Aac	p.D471N	SLC1A2_ENST00000395750.1_Missense_Mutation_p.D462N|SLC1A2_ENST00000479543.1_5'UTR|SLC1A2_ENST00000395753.1_Missense_Mutation_p.D462N|SLC1A2_ENST00000606205.1_Missense_Mutation_p.D471N	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	471					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.D471N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	AGCAGCCAGTCCACAGCCACC	0.602000													11	319					0	0	1	0	0
C12orf56	115749	broad.mit.edu	37	12	64678484	64678484	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:64678484C>G	ENST00000543942.2	-	8	1896	c.1270G>C	c.(1270-1272)Gaa>Caa	p.E424Q	C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Missense_Mutation_p.E264Q	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	427								p.E264Q(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		GACTCGGTTTCTGTTTCTCTG	0.373000													22	70					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179605502	179605502	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:179605502T>A	ENST00000589042.1	-	48	12682	c.12458A>T	c.(12457-12459)cAg>cTg	p.Q4153L	TTN_ENST00000359218.5_Missense_Mutation_p.Q3915L|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Q3836L|TTN_ENST00000342175.6_Missense_Mutation_p.Q3982L|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q3790L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3836							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Q3915L(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTACAATCTGCAGCTGTAG	0.458000													71	177					0	0	1	0	0
GPR183	1880	broad.mit.edu	37	13	99947431	99947431	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr13:99947431C>G	ENST00000376414.4	-	2	1052	c.969G>C	c.(967-969)ctG>ctC	p.L323L	UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	323					humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.L323L(2)		cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						CTTGCCGTTTCAGCATCCTCA	0.408000													36	136					0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151138777	151138777	+	Missense_Mutation	SNP	C	C	T	rs61730040	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:151138777C>T	ENST00000370325.1	-	2	207	c.154G>A	c.(154-156)Gag>Aag	p.E52K	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.E52K			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	52					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.E52K(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGTTTCCTCAGAGAGGAGC	0.507000													6	114					0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24756942	24756942	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:24756942C>A	ENST00000545231.1	-	7	1286	c.136G>T	c.(136-138)Gag>Tag	p.E46*	DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000342947.3_Nonsense_Mutation_p.E210*|DFNA5_ENST00000409970.1_Nonsense_Mutation_p.E46*|DFNA5_ENST00000409775.3_Nonsense_Mutation_p.E210*|DFNA5_ENST00000419307.1_Nonsense_Mutation_p.E46*			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	210					sensory perception of sound			p.E210*(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GCTGGGATCTCCAGCACCACG	0.587000													22	75					4.59853e-10	4.96834e-10	1	1	0
CENPT	80152	broad.mit.edu	37	16	67865073	67865073	+	Missense_Mutation	SNP	G	G	A	rs8052287	by1000genomes	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:67865073G>A	ENST00000445712.2	-	6	686	c.440C>T	c.(439-441)cCg>cTg	p.P147L	CENPT_ENST00000564817.1_Intron|CENPT_ENST00000562787.1_Intron|CENPT_ENST00000219172.3_Intron|CENPT_ENST00000562947.1_Intron|CENPT_ENST00000440851.2_Intron			Q96BT3	CENPT_HUMAN	centromere protein T	0					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CTGTCATAGCGGGGAGAGCTT	0.562000													4	68					0	0	1	0	0
OR7A5	26659	broad.mit.edu	37	19	14938176	14938176	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:14938176C>A	ENST00000322301.3	-	2	965	c.878G>T	c.(877-879)aGg>aTg	p.R293M	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.R293M			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293M(2)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GTCTTTATTCCTCAGACTATA	0.468000													62	120					1.12357e-39	1.31509e-39	1	1	0
CLCA2	9635	broad.mit.edu	37	1	86920813	86920813	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:86920813A>G	ENST00000370565.4	+	14	2597	c.2435A>G	c.(2434-2436)cAa>cGa	p.Q812R		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	812					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CAGAATATCCAAGATGACTTT	0.318000													4	72					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48563896	48563896	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:48563896G>A	ENST00000435803.1	+	54	14128	c.14104G>A	c.(14104-14106)Gaa>Aaa	p.E4702K	ABCA13_ENST00000544596.1_Missense_Mutation_p.E432K	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4702					transport	integral to membrane	ATP binding|ATPase activity	p.E4647K(2)|p.E4702K(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TACAGATGTTGAAAAAGAGGA	0.383000													16	82					0	0	1	0	0
TTC8	123016	broad.mit.edu	37	14	89338775	89338775	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr14:89338775G>A	ENST00000338104.6	+	13	1426	c.1374G>A	c.(1372-1374)atG>atA	p.M458I	TTC8_ENST00000358622.5_Missense_Mutation_p.M244I|TTC8_ENST00000354441.6_Missense_Mutation_p.M177I|TTC8_ENST00000380656.2_Missense_Mutation_p.M442I|TTC8_ENST00000536576.1_Missense_Mutation_p.M203I|TTC8_ENST00000345383.5_Missense_Mutation_p.M432I|TTC8_ENST00000346301.4_Missense_Mutation_p.M402I			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	468					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	p.M442I(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGCTGGAGATGCGGAAGGGCC	0.532000													87	264					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248403046	248403046	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:248403046G>C	ENST00000306687.1	+	1	816	c.816G>C	c.(814-816)aaG>aaC	p.K272N		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K272N(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACCAGGACAAGATGGTGTCGG	0.502000													32	238					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82763878	82763878	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:82763878C>T	ENST00000423517.2	-	3	3325	c.2988G>A	c.(2986-2988)gtG>gtA	p.V996V	PCLO_ENST00000333891.8_Silent_p.V996V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	942					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.V996V(4)|p.V942V(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTCCTTTTTCACAGGTATAC	0.468000													13	41					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													4	33					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180044335	180044335	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:180044335G>A	ENST00000367607.3	+	28	6164	c.5746G>A	c.(5746-5748)Gac>Aac	p.D1916N		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1916						centrosome|nucleus|spindle		p.D1916N(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGAACTGGAGGACCAGAGAAC	0.333000													5	33					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33600726	33600726	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:33600726G>T	ENST00000170564.2	+	11	1703	c.1389G>T	c.(1387-1389)agG>agT	p.R463S		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	463						catalytic step 2 spliceosome	nucleic acid binding	p.R463S(2)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TCAAGGCCAGGAGTCTGGCCC	0.542000													20	119					1.28384e-07	1.36795e-07	1	1	0
TYRO3	7301	broad.mit.edu	37	15	41865997	41865997	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr15:41865997G>C	ENST00000263798.3	+	18	2490	c.2266G>C	c.(2266-2268)Gag>Cag	p.E756Q	TYRO3_ENST00000559066.1_Missense_Mutation_p.E711Q	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	756	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.E756Q(2)|p.E748Q(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAGCCTCCGGAGTGTATGGA	0.552000													16	23					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813279	106813279	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:106813279G>A	ENST00000407775.2	+	8	1219	c.969G>A	c.(967-969)gtG>gtA	p.V323V	RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.V191V|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.V54V|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.V191V|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	323					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.V323V(2)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTCTAGGAGTGAAAATGGAAG	0.418000													44	179					0	0	1	0	0
TRA2A	29896	broad.mit.edu	37	7	23571409	23571409	+	Splice_Site	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:23571409C>G	ENST00000297071.4	-	1	251	c.36_splice	c.e1+1	p.R12_splice	TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	12					nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding	p.R12T(2)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TGTACTCACTCTGCCCTCGAA	0.612000													14	39					0	0	1	0	0
FAM211B	388886	broad.mit.edu	37	22	24985872	24985872	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr22:24985872C>G	ENST00000318753.8	-	2	246	c.223G>C	c.(223-225)Gat>Cat	p.D75H	GGT1_ENST00000248923.4_Intron|FAM211B_ENST00000495297.1_5'UTR	NM_207644.2	NP_997527.2	Q2VPJ9	LRC6X_HUMAN	family with sequence similarity 211, member B	75								p.D75H(1)									AAGGCCACATCTCTGTAGAGG	0.607000													2	8					0	0	1	0	0
DDX27	55661	broad.mit.edu	37	20	47839551	47839551	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr20:47839551G>C	ENST00000371764.4	+	3	400	c.391G>C	c.(391-393)Gag>Cag	p.E131Q	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	131	Asp/Glu/Lys-rich.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.E131Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AAGGAAAACAGAGGTGAGAAG	0.423000													7	34					0	0	1	0	0
DNAJC1	64215	broad.mit.edu	37	10	22048380	22048380	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr10:22048380C>T	ENST00000376980.3	-	11	1605	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N		NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	439					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	p.D439N(2)		cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				GGCCGGGCATCAGTGGCCCCG	0.662000													5	36					0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107416977	107416977	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:107416977C>T	ENST00000340010.5	-	15	1781	c.1597G>A	c.(1597-1599)Gaa>Aaa	p.E533K	SLC26A3_ENST00000422236.2_Missense_Mutation_p.E498K	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	533	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.E533K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTCACTCCTTCTGGCTCATAC	0.378000													11	195					0	0	1	0	0
ULBP3	79465	broad.mit.edu	37	6	150385794	150385794	+	Silent	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:150385794G>C	ENST00000367339.1	-	4	712	c.684C>G	c.(682-684)ctC>ctG	p.L228L	ULBP3_ENST00000438272.2_Silent_p.L228L			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	228					antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity	p.L228L(2)		central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		TCCAGGGACTGAGGGTGGTGG	0.527000													4	36					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55546020	55546020	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:55546020C>T	ENST00000436346.1	-	19	4124	c.3283G>A	c.(3283-3285)Gaa>Aaa	p.E1095K	CCDC88A_ENST00000336838.6_Missense_Mutation_p.E1094K|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E1095K|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E1094K	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1095					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	p.E1094K(2)|p.E1095K(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTATTCTGTTCTTGTAATGAC	0.368000													42	136					0	0	1	0	0
C11orf70	85016	broad.mit.edu	37	11	101953881	101953881	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:101953881G>A	ENST00000434758.2	+	7	783	c.755G>A	c.(754-756)cGt>cAt	p.R252H		NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	252								p.R214H(2)		breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		CCTATCAGGCGTCACCTTCAT	0.343000													67	190					0	0	1	0	0
UVRAG	7405	broad.mit.edu	37	11	75852254	75852254	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:75852254G>A	ENST00000356136.3	+	15	2138	c.1897G>A	c.(1897-1899)Gaa>Aaa	p.E633K	UVRAG_ENST00000538870.1_Missense_Mutation_p.E189K|UVRAG_ENST00000531818.1_Missense_Mutation_p.E261K|UVRAG_ENST00000532130.1_Missense_Mutation_p.E261K|UVRAG_ENST00000533454.1_Missense_Mutation_p.E261K|UVRAG_ENST00000528420.1_Missense_Mutation_p.E532K|UVRAG_ENST00000539288.1_Missense_Mutation_p.E261K	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	633					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	p.E633K(2)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GGAGCAAGCAGAAGAAATCAT	0.567000													10	45					0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30418929	30418929	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr20:30418929T>C	ENST00000375994.2	+	9	1682	c.1409T>C	c.(1408-1410)gTg>gCg	p.V470A	MYLK2_ENST00000375985.4_Missense_Mutation_p.V470A|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	470	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	p.V470A(2)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGTATGGGGGTGATCACCTAC	0.567000													24	92					0	0	1	0	0
TRBC2	28638	broad.mit.edu	37	7	142498916	142498916	+	RNA	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:142498916G>A	ENST00000466254.1	+	0	192																											GCCCCTCAAGGAGCAGCCCGC	0.642000													32	151					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135032354	135032354	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr10:135032354C>G	ENST00000304613.3	+	27	4718	c.4697C>G	c.(4696-4698)tCc>tGc	p.S1566C	KNDC1_ENST00000368572.2_Missense_Mutation_p.S1568C			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1566	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			p.S1566C(2)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AACTTGCTGTCCAAATTTTTG	0.463000													19	51					0	0	1	0	0
THAP7-AS1	439931	broad.mit.edu	37	22	21363078	21363078	+	RNA	SNP	A	A	G	rs73164845	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr22:21363078A>G	ENST00000452284.1	+	0	745				TUBA3FP_ENST00000422086.1_RNA|THAP7-AS1_ENST00000436079.1_RNA	NR_027051.1																						CTTAAATCCAATCGGACACCA	0.532000													3	11					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138832284	138832284	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:138832284T>A	ENST00000370557.1	-	24	3746	c.2719A>T	c.(2719-2721)Atg>Ttg	p.M907L	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Missense_Mutation_p.M913L|ATP11C_ENST00000370543.1_Missense_Mutation_p.M913L|ATP11C_ENST00000361648.2_Missense_Mutation_p.M913L|ATP11C_ENST00000359686.2_Missense_Mutation_p.M913L			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	913					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.M913L(4)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ATATTGTACATTGTAAGGTAA	0.383000													99	170					0	0	1	0	0
PEX14	5195	broad.mit.edu	37	1	10555367	10555367	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:10555367C>G	ENST00000356607.4	+	2	153	c.73C>G	c.(73-75)Cga>Gga	p.R25G	PEX14_ENST00000538836.1_5'UTR	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	25					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity	p.R25G(2)		breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		TGTGCTGCCTCGAGAGCCGCT	0.433000											OREG0013090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	64					0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56737273	56737273	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr4:56737273A>G	ENST00000381295.2	+	7	1186	c.838A>G	c.(838-840)Atg>Gtg	p.M280V	EXOC1_ENST00000349598.6_Missense_Mutation_p.M280V|EXOC1_ENST00000346134.7_Missense_Mutation_p.M280V	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	280					exocytosis|protein transport	exocyst	protein binding	p.M280V(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					CTAGAACCACATGGACTTGGC	0.433000													10	113					0	0	1	0	0
LYN	4067	broad.mit.edu	37	8	56866476	56866476	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:56866476G>C	ENST00000520220.2	+	8	934	c.660G>C	c.(658-660)gaG>gaC	p.E220D	LYN_ENST00000519728.1_Missense_Mutation_p.E241D	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	241	SH2.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	p.E241D(2)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			ATGCCTGGGAGATCCCCCGGG	0.527000													12	79					0	0	1	0	0
TAAR9	134860	broad.mit.edu	37	6	132859813	132859813	+	RNA	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:132859813G>T	ENST00000434551.1	+	0	385					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TATCTCTGTTGATAGATACAT	0.383000													13	117					0.00185496	0.00190426	1	1	0
KRTAP23-1	337963	broad.mit.edu	37	21	31720897	31720897	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr21:31720897A>C	ENST00000334160.4	-	1	27	c.28T>G	c.(28-30)Ttc>Gtc	p.F10V		NM_181624.1	NP_853655.1	A1A580	KR231_HUMAN	keratin associated protein 23-1	10						intermediate filament		p.F10V(2)		large_intestine(1)|lung(4)|prostate(1)	6						TGGGAGGAGAAGTTTCCACAG	0.537000													73	596					0	0	1	0	0
ANKRD20A5P	440482	broad.mit.edu	37	18	14179411	14179411	+	RNA	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr18:14179411C>T	ENST00000581935.1	+	0	316																				lung(3)	3						TGTTCGGCTTCAGGAGCCGCA	0.607000													4	14					0	0	1	0	0
KIN	22944	broad.mit.edu	37	10	7820880	7820880	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr10:7820880T>A	ENST00000379562.3	-	5	526	c.479A>T	c.(478-480)aAg>aTg	p.K160M	KIN_ENST00000535925.1_Missense_Mutation_p.K160M|KIN_ENST00000543003.1_Missense_Mutation_p.K54M			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	160					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding	p.K160M(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AAGGTCCTGCTTTTTCTTTTT	0.453000													30	235					0	0	1	0	0
BCAR1	9564	broad.mit.edu	37	16	75263784	75263784	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:75263784G>A	ENST00000546196.1	-	7	3803	c.2151C>T	c.(2149-2151)ttC>ttT	p.F717F	BCAR1_ENST00000420641.3_Silent_p.F764F|BCAR1_ENST00000418647.3_Silent_p.F792F|BCAR1_ENST00000393420.6_Silent_p.F764F|BCAR1_ENST00000393422.2_Silent_p.F764F|BCAR1_ENST00000162330.5_Silent_p.F746F|BCAR1_ENST00000535626.2_Silent_p.F598F|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000538440.2_Silent_p.F746F|BCAR1_ENST00000542031.2_Silent_p.F744F			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	746					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	p.F746F(2)|p.F764F(2)|p.F792F(2)		breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCTCCAGGTAGAAGAGCAGCA	0.672000													6	11					0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124503575	124503575	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:124503575G>A	ENST00000357628.3	-	8	973	c.375C>T	c.(373-375)ttC>ttT	p.F125F	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	125					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.F125F(4)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CCTCAGTAGTGAAGTTAAAAT	0.443000													112	280					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100949976	100949976	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:100949976C>T	ENST00000193391.7	-	16	3434	c.3247G>A	c.(3247-3249)Gag>Aag	p.E1083K		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1083	EGF-like 2.|Hyaluronan-binding motif involved in chondroitin sulfate C-binding (By similarity).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	p.E1083K(2)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CACCAGTTCTCACCCACCCGG	0.507000													74	221					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245530604	245530604	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:245530604C>T	ENST00000407071.2	+	3	1374	c.934C>T	c.(934-936)Cac>Tac	p.H312Y	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	312					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.H312Y(4)|p.H112Y(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CATCCAGGCTCACCAGTACCT	0.592000													8	16					0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56217256	56217256	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:56217256C>G	ENST00000357606.3	-	4	1733	c.1444G>C	c.(1444-1446)Gag>Cag	p.E482Q	RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.G111A|DNAJC14_ENST00000317269.3_Missense_Mutation_p.E482Q|DNAJC14_ENST00000317287.5_Missense_Mutation_p.E482Q			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	482	J.				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	p.E482Q(2)		breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TTGAAGGCCTCCTCAGCCCGG	0.438000													20	87					0	0	1	0	0
KLHL3	26249	broad.mit.edu	37	5	136963999	136963999	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:136963999G>T	ENST00000508657.1	-	13	2196	c.1482C>A	c.(1480-1482)tgC>tgA	p.C494*	KLHL3_ENST00000541417.1_3'UTR|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000309755.4_Nonsense_Mutation_p.C526*|KLHL3_ENST00000506491.1_Nonsense_Mutation_p.C444*	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	526						cytoplasm|cytoskeleton	actin binding|structural molecule activity	p.C526*(2)|p.C526C(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CGTTGCGCCGGCACATGTTCA	0.537000													77	338					3.62344e-47	4.27345e-47	1	1	0
SLC35B2	347734	broad.mit.edu	37	6	44222521	44222521	+	Silent	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:44222521G>C	ENST00000393812.3	-	4	1364	c.1221C>G	c.(1219-1221)ctC>ctG	p.L407L	SLC35B2_ENST00000538577.1_Silent_p.L314L|SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000537814.1_Silent_p.L274L|SLC35B2_ENST00000495706.1_5'UTR	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	407					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	p.L407L(2)		breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CGTAGACTCTGAGCAGGAGGG	0.602000													12	75					0	0	1	0	0
CACNG4	27092	broad.mit.edu	37	17	65027117	65027117	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:65027117G>T	ENST00000262138.3	+	4	983	c.981G>T	c.(979-981)gtG>gtT	p.V327V		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	327					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	p.V327V(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CGACCCCTGTGTGAGCCGCCT	0.572000													61	245					8.50452e-49	1.00686e-48	1	1	0
NOP16	51491	broad.mit.edu	37	5	175812222	175812222	+	Splice_Site	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:175812222C>T	ENST00000389158.5	-	4	828	c.393_splice	c.e4+1	p.K131_splice	NOP16_ENST00000509257.1_Silent_p.K131K|NOP16_ENST00000507413.1_Intron|NOP16_ENST00000510123.1_Splice_Site_p.K131_splice			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	131						nucleolus		p.K106K(2)|p.K131K(2)		central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						AGCCGCTCACCTTATAGTCCT	0.562000													6	32					0	0	1	0	0
FOLR3	2352	broad.mit.edu	37	11	71850176	71850176	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:71850176G>T	ENST00000445078.2	+	3	531	c.460G>T	c.(460-462)Ggg>Tgg	p.G154W	FOLR3_ENST00000456237.1_Missense_Mutation_p.G156W|FOLR3_ENST00000442948.2_Missense_Mutation_p.G113W			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	112					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	p.G156W(1)		large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	ACCCAACCTGGGGCCCTGGAT	0.572000													5	45					1.06961e-07	1.14363e-07	1	1	0
PPP2R2A	5520	broad.mit.edu	37	8	26223870	26223870	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:26223870G>A	ENST00000380737.3	+	9	1341	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.E348K	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha									p.E338K(2)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TTCACTGTATGAAAATGACTG	0.308000													12	69					0	0	1	0	0
NUMB	8650	broad.mit.edu	37	14	73749182	73749182	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr14:73749182G>C	ENST00000556772.1	-	5	2836	c.549C>G	c.(547-549)atC>atG	p.I183M	NUMB_ENST00000356296.4_Missense_Mutation_p.I327M|NUMB_ENST00000355058.3_Missense_Mutation_p.I327M|NUMB_ENST00000359560.3_Missense_Mutation_p.I316M|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000555738.2_Missense_Mutation_p.I218M|NUMB_ENST00000560335.1_Missense_Mutation_p.I229M|NUMB_ENST00000454166.4_Missense_Mutation_p.I229M|NUMB_ENST00000555394.1_Missense_Mutation_p.I327M|NUMB_ENST00000555238.1_Missense_Mutation_p.I327M|NUMB_ENST00000554546.1_Missense_Mutation_p.I316M|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000557597.1_Missense_Mutation_p.I316M|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000535282.1_Missense_Mutation_p.I316M			P49757	NUMB_HUMAN	numb homolog (Drosophila)	327	PID.				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane		p.I327M(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		ACAGGGAGCTGATGCTCTCTG	0.498000													22	59					0	0	1	0	0
HYI	81888	broad.mit.edu	37	1	43917151	43917151	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:43917151G>A	ENST00000583037.1	-	7	885	c.471C>T	c.(469-471)ttC>ttT	p.F157F	HYI_ENST00000372432.1_Silent_p.F230F|HYI_ENST00000372426.1_Silent_p.F182F|SZT2_ENST00000372442.1_3'UTR|HYI_ENST00000372434.1_Silent_p.F255F|HYI_ENST00000486909.1_Silent_p.F230F|HYI_ENST00000372425.4_Silent_p.F230F|SZT2_ENST00000562955.1_3'UTR	NM_001190880.2	NP_001177809.1	Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	230							hydroxypyruvate isomerase activity	p.F230F(2)|p.F157F(2)		large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACAGATAGGGGAAATTCAGCT	0.607000													3	23					0	0	1	0	0
N4BP1	9683	broad.mit.edu	37	16	48594762	48594762	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:48594762C>T	ENST00000262384.3	-	2	2028	c.1792G>A	c.(1792-1794)Gat>Aat	p.D598N	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	598					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		p.D598N(2)|p.D645N(2)		breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TTTAGAGTATCTCGAAACCTT	0.423000													31	180					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	G	rs121912660		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:7577099C>G	ENST00000420246.2	-	8	971	c.839G>C	c.(838-840)aGa>aCa	p.R280T	TP53_ENST00000455263.2_Missense_Mutation_p.R280T|TP53_ENST00000445888.2_Missense_Mutation_p.R280T|TP53_ENST00000269305.4_Missense_Mutation_p.R280T|TP53_ENST00000359597.4_Missense_Mutation_p.R280T|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (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.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GCGCCGGTCTCTCCCAGGACA	0.542000		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)			18	38					0	0	1	0	0
MUT	4594	broad.mit.edu	37	6	49425625	49425625	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:49425625G>C	ENST00000274813.3	-	3	659	c.532C>G	c.(532-534)Cct>Gct	p.P178A		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	178					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	p.P178A(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTTCTAAAGGAATTCCATCA	0.383000													20	102					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34145245	34145245	+	Splice_Site	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr15:34145245G>T	ENST00000389232.4	+	95	13698		c.e95-1		RYR3_ENST00000415757.3_Splice_Site|RYR3_ENST00000559917.1_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.?(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGTTTTTCAGATCTTTTCCT	0.383000													9	35					2.52707e-12	2.75924e-12	1	1	0
FSIP2	401024	broad.mit.edu	37	2	186670938	186670938	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:186670938G>C	ENST00000343098.5	+	17	17172	c.17172G>C	c.(17170-17172)aaG>aaC	p.K5724N	FSIP2_ENST00000424728.1_Missense_Mutation_p.K5635N	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.K333N(4)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGAAGTCCAAGAGAAATCTAG	0.388000													9	59					0	0	1	0	0
EXOG	9941	broad.mit.edu	37	3	38548401	38548401	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:38548401C>T	ENST00000287675.5	+	5	683	c.587C>T	c.(586-588)tCt>tTt	p.S196F	EXOG_ENST00000422077.2_Missense_Mutation_p.S146F|EXOG_ENST00000358249.2_Missense_Mutation_p.S56F	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	196						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	p.S196F(2)		central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TGGGTGGTATCTGGGCCTTTG	0.353000													21	70					0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60505791	60505791	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:60505791C>G	ENST00000371201.3	-	5	652	c.545G>C	c.(544-546)aGa>aCa	p.R182T	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	182							calcium ion binding	p.R182T(2)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAGTTCTCTTCTGACCAGGGC	0.423000													38	178					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2876054	2876054	+	Silent	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:2876054A>G	ENST00000602557.1	-	53	8532	c.7977T>C	c.(7975-7977)caT>caC	p.H2659H	CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000520002.1_Silent_p.H2659H|CSMD1_ENST00000537824.1_Silent_p.H2658H|CSMD1_ENST00000542608.1_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2659	Sushi 17.					integral to membrane		p.H2387H(2)|p.H2658H(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTCTCTGACATGAGACCCCA	0.483000													90	402					0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62761244	62761244	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:62761244G>C	ENST00000336232.2	-	9	1458	c.1323C>G	c.(1321-1323)atC>atG	p.I441M	SLC22A8_ENST00000535878.1_Missense_Mutation_p.I318M|SLC22A8_ENST00000311438.8_Missense_Mutation_p.I441M|SLC22A8_ENST00000430500.2_Missense_Mutation_p.I441M|SLC22A8_ENST00000545207.1_Missense_Mutation_p.I350M	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	441					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	p.I441M(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GCACCTACCTGATGACTGTGG	0.562000													15	165					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124323233	124323233	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:124323233C>G	ENST00000409039.3	+	28	4804	c.4779C>G	c.(4777-4779)atC>atG	p.I1593M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1593	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I185M(2)|p.I1593M(2)		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)		AGCACATGATCAAGGTCAGCC	0.557000													131	309					0	0	1	0	0
FLCN	201163	broad.mit.edu	37	17	17122443	17122443	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:17122443C>A	ENST00000285071.4	-	9	1406	c.952G>T	c.(952-954)Gaa>Taa	p.E318*	RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	318					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	p.E318*(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TCCCGCCCTTCTGTACTCTCT	0.587000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				12	41					0.000308642	0.000318964	1	1	0
ADD3	120	broad.mit.edu	37	10	111878416	111878416	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr10:111878416C>T	ENST00000277900.8	+	6	1004	c.639C>T	c.(637-639)ttC>ttT	p.F213F	ADD3_ENST00000356080.4_Silent_p.F213F|ADD3_ENST00000360162.3_Silent_p.F213F	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	213						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	p.F213F(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ATACAGGATTCAGTCCCCATG	0.393000													39	128					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149514487	149514487	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:149514487C>G	ENST00000261799.4	-	4	926	c.457G>C	c.(457-459)Gac>Cac	p.D153H		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	153	Ig-like C2-type 2.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	p.D153H(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGCTGTGGGTCTGTTACTCGG	0.522000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								36	89					0	0	1	0	0
MANBA	4126	broad.mit.edu	37	4	103590175	103590175	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr4:103590175A>T	ENST00000226578.4	-	10	1361	c.1262T>A	c.(1261-1263)cTt>cAt	p.L421H	MANBA_ENST00000505239.1_Missense_Mutation_p.L364H	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	421					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding	p.L421H(1)		cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		AGTTGGATAAAGGGCACAGGC	0.373000													8	80					0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50891429	50891429	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr15:50891429C>A	ENST00000313478.7	-	22	3334	c.3053G>T	c.(3052-3054)aGa>aTa	p.R1018I	TRPM7_ENST00000560955.1_Missense_Mutation_p.R1018I	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1018					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	p.R1018I(2)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TATTGCCTTTCTGGGAACACC	0.353000													28	83					1.06801e-11	1.16203e-11	1	1	0
BCHE	590	broad.mit.edu	37	3	165548362	165548362	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:165548362G>A	ENST00000264381.3	-	2	626	c.460C>T	c.(460-462)Cat>Tat	p.H154Y	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	154					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.H154Y(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TCATAAACATGTAAAGATGAT	0.383000													18	79					0	0	0.008871	0	0
TYMP	1890	broad.mit.edu	37	22	50967929	50967929	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr22:50967929C>A	ENST00000252029.3	-	2	372	c.210G>T	c.(208-210)caG>caT	p.Q70H	TYMP_ENST00000395678.3_Missense_Mutation_p.Q70H|TYMP_ENST00000395680.1_Missense_Mutation_p.Q70H|TYMP_ENST00000395681.1_Missense_Mutation_p.Q70H	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	70					angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity	p.Q70H(1)		large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	ACGCACCGATCTGTGCGCCCT	0.682000													8	100					0.000442599	0.000478444	0.006214	1	0
DPY19L4	286148	broad.mit.edu	37	8	95738658	95738658	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:95738658G>A	ENST00000414645.2	+	2	215	c.116G>A	c.(115-117)aGa>aAa	p.R39K		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	39						integral to membrane		p.R39K(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					ATTCCTGAAAGAGCTCCAAAA	0.333000													8	61					0	0	0.003080	0	0
PIDD	55367	broad.mit.edu	37	11	800571	800571	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:800571G>A	ENST00000347755.5	-	12	2154	c.2013C>T	c.(2011-2013)gcC>gcT	p.A671A	PIDD_ENST00000411829.2_Silent_p.A671A	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	671					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	p.A671A(1)									CGCGCTCGAAGGCCGCAAAGA	0.677000													8	66					0	0	0.006214	0	0
SAMD15	161394	broad.mit.edu	37	14	77845256	77845256	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr14:77845256G>C	ENST00000216471.4	+	1	1781	c.1495G>C	c.(1495-1497)Gag>Cag	p.E499Q	SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	499								p.E499Q(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGATCCCTCAGAGTCTCAGAC	0.408000													21	82					0	0	0.002299	0	0
PLP1	5354	broad.mit.edu	37	X	103044264	103044264	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:103044264C>T	ENST00000418604.1	+	7	979	c.699C>T	c.(697-699)ttC>ttT	p.F233F	PLP1_ENST00000361621.2_Silent_p.F198F|PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000303958.2_Silent_p.F233F	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	233					cell death|synaptic transmission	integral to membrane		p.F233F(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						TCCTGCAGTTCCAAATGACCT	0.413000													34	56					0	0	0.002836	0	0
TYRO3	7301	broad.mit.edu	37	15	41865997	41865997	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr15:41865997G>C	ENST00000263798.3	+	18	2490	c.2266G>C	c.(2266-2268)Gag>Cag	p.E756Q	TYRO3_ENST00000559066.1_Missense_Mutation_p.E711Q	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	756	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.E756Q(2)|p.E748Q(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAGCCTCCGGAGTGTATGGA	0.552000													31	101					0	0	0.002096	0	0
SMAD4	4089	broad.mit.edu	37	18	48575671	48575671	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr18:48575671C>G	ENST00000342988.3	+	4	969	c.431C>G	c.(430-432)tCa>tGa	p.S144*	RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.S144*|SMAD4_ENST00000452201.2_Nonsense_Mutation_p.S144*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.S144*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	144					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.S144*(5)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TAAGATCTCTCAGGATTAACA	0.294000													12	45					0	0	0.002450	0	0
TLK2	11011	broad.mit.edu	37	17	60613585	60613585	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:60613585A>G	ENST00000326270.9	+	7	686	c.418A>G	c.(418-420)Acg>Gcg	p.T140A	TLK2_ENST00000582809.1_5'UTR|TLK2_ENST00000343388.7_Missense_Mutation_p.T108A|TLK2_ENST00000542523.1_Missense_Mutation_p.T108A|TLK2_ENST00000346027.5_Missense_Mutation_p.T140A			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	140					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.T140A(4)|p.T139A(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AAAGGAGGCAACGGAGGAGCA	0.512000													18	76					0	0	0.006122	0	0
TRHDE	29953	broad.mit.edu	37	12	72893294	72893294	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:72893294T>C	ENST00000261180.4	+	6	1562	c.1466T>C	c.(1465-1467)cTg>cCg	p.L489P		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	489					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.L489P(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CAGAGGTTTCTGACCGATGTT	0.448000													15	75					0	0	0.002450	0	0
DNAJB11	51726	broad.mit.edu	37	3	186301672	186301672	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:186301672G>C	ENST00000439351.1	+	9	1688	c.759G>C	c.(757-759)agG>agC	p.R253S	DNAJB11_ENST00000265028.3_Missense_Mutation_p.R253S			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	253					protein folding	endoplasmic reticulum lumen	heat shock protein binding	p.R253S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TATTTGAAAGGAGAGGAGATG	0.338000													4	112					0	0	0.009096	0	0
CPSF3L	54973	broad.mit.edu	37	1	1250237	1250237	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:1250237C>G	ENST00000540437.1	-	9	1142	c.687G>C	c.(685-687)aaG>aaC	p.K229N	CPSF3L_ENST00000435064.1_Missense_Mutation_p.K223N|CPSF3L_ENST00000450926.2_Missense_Mutation_p.K201N|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000419704.1_Missense_Mutation_p.K122N|CPSF3L_ENST00000545578.1_Missense_Mutation_p.K194N|CPSF3L_ENST00000421495.2_5'UTR|CPSF3L_ENST00000411962.1_Missense_Mutation_p.K125N	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	223						Golgi apparatus|nucleus	hydrolase activity	p.K223N(1)		endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		CGTGGACTTTCTTCAGGAAGT	0.632000													17	92					0	0	0.006122	0	0
IMPG2	50939	broad.mit.edu	37	3	100949976	100949976	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:100949976C>T	ENST00000193391.7	-	16	3434	c.3247G>A	c.(3247-3249)Gag>Aag	p.E1083K		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1083	EGF-like 2.|Hyaluronan-binding motif involved in chondroitin sulfate C-binding (By similarity).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	p.E1083K(2)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CACCAGTTCTCACCCACCCGG	0.507000													46	228					0	0	0.003214	0	0
COG3	83548	broad.mit.edu	37	13	46056606	46056606	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr13:46056606C>T	ENST00000349995.5	+	6	827	c.715C>T	c.(715-717)Cat>Tat	p.H239Y		NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	239					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity	p.H239Y(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		TATCTCATCTCATGTAAGTCA	0.328000													6	61					0	0	0.003080	0	0
FRRS1	391059	broad.mit.edu	37	1	100212973	100212973	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:100212973C>T	ENST00000414213.1	-	4	811	c.210G>A	c.(208-210)ggG>ggA	p.G70G	FRRS1_ENST00000287474.5_Silent_p.G70G			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	70	Reelin.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		TAAATGGATGCCCTGACAAAG	0.383000													5	240					0	0	0.000602	0	0
LRP1	4035	broad.mit.edu	37	12	57567684	57567684	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:57567684C>T	ENST00000243077.3	+	22	3934	c.3468C>T	c.(3466-3468)acC>acT	p.T1156T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1156	LDL-receptor class A 10.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.T1156T(2)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCAACAACACCTCAGTCTGCC	0.622000													39	114					0	0	0.006999	0	0
CACNA1B	774	broad.mit.edu	37	9	140870387	140870387	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr9:140870387C>G	ENST00000371372.1	+	12	1717	c.1572C>G	c.(1570-1572)ctC>ctG	p.L524L	CACNA1B_ENST00000371357.1_Silent_p.L525L|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Silent_p.L525L|CACNA1B_ENST00000277551.2_Silent_p.L524L|CACNA1B_ENST00000371363.1_Silent_p.L524L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	524					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.L524L(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCCTGGGTCTCTTCCTCACAG	0.567000													8	28					0	0	0.004482	0	0
CNTLN	54875	broad.mit.edu	37	9	17298312	17298312	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr9:17298312G>T	ENST00000380647.3	+	7	1192	c.1108G>T	c.(1108-1110)Gaa>Taa	p.E370*	CNTLN_ENST00000262360.5_Nonsense_Mutation_p.E370*|CNTLN_ENST00000380641.4_Nonsense_Mutation_p.E370*|CNTLN_ENST00000425824.1_Nonsense_Mutation_p.E370*			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	370						centriole|membrane	two-component sensor activity	p.E370*(2)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GAGAAATCAGGAAGATGTTCA	0.343000													14	60					2.32078e-09	2.74031e-09	0.003163	1	0
SLCO5A1	81796	broad.mit.edu	37	8	70617351	70617351	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:70617351C>A	ENST00000260126.3	-	6	2243	c.1537G>T	c.(1537-1539)Gtg>Ttg	p.V513L	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.V458L|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.V513L	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	513						integral to membrane|plasma membrane	transporter activity	p.V513L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AGTAAAGACACACCACTGCAG	0.398000													19	146					7.07596e-05	7.73067e-05	0.006122	1	0
CACNA1B	774	broad.mit.edu	37	9	140919511	140919511	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr9:140919511C>T	ENST00000277549.5	+	20	3318	c.749C>T	c.(748-750)gCa>gTa	p.A250V	CACNA1B_ENST00000545473.1_Missense_Mutation_p.A42V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A1059V|CACNA1B_ENST00000371367.5_Missense_Mutation_p.A42V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A1059V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A1058V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A1058V|CACNA1B_ENST00000371372.1_Missense_Mutation_p.A1058V			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1058					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.A1058V(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCAGAGGATGCAGACAATCAG	0.592000													7	37					0	0	0.004482	0	0
TBCC	6903	broad.mit.edu	37	6	42713509	42713509	+	Silent	SNP	T	T	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:42713509T>G	ENST00000244625.2	-	2	866	c.303A>C	c.(301-303)tcA>tcC	p.S101S	TBCC_ENST00000372876.1_Silent_p.S101S			Q15814	TBCC_HUMAN	tubulin folding cofactor C	101					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			GGAAAAAAACTGAGTCGTTGA	0.682000													5	107					0	0	0.001984	0	0
ETNK1	55500	broad.mit.edu	37	12	22778145	22778145	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:22778145C>G	ENST00000266517.4	+	1	137	c.48C>G	c.(46-48)ctC>ctG	p.L16L	ETNK1_ENST00000335148.3_Silent_p.L16L	NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	16					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity	p.L16L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGAATTTTCTCCGAGAGCGGG	0.721000													4	45					0	0	0.009096	0	0
PDPR	55066	broad.mit.edu	37	16	70190452	70190452	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:70190452C>T	ENST00000288050.4	+	19	3267	c.2310C>T	c.(2308-2310)ttC>ttT	p.F770F	PDPR_ENST00000542659.1_Silent_p.F115F|PDPR_ENST00000567046.1_Silent_p.F128F|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000398122.3_Silent_p.F670F|PDPR_ENST00000568530.1_Silent_p.F770F|RP11-296I10.3_ENST00000566989.1_RNA	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	770					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	p.F770F(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TCACCATGTTCATCCTGGACG	0.532000													61	262					0	0	0.003610	0	0
FIZ1	84922	broad.mit.edu	37	19	56104103	56104103	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:56104103C>T	ENST00000221665.3	-	3	1293	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding	p.E402K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GACGGGGGTTCCCCGGACGCC	0.736000													6	55					0	0	0.004482	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617486	77617486	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:77617486C>G	ENST00000521891.2	+	2	1611	c.1163C>G	c.(1162-1164)aCc>aGc	p.T388S	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T388S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.T388S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T388S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	388						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T388S(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCGCGAGCACCTCGAGCTCA	0.532000										HNSCC(33;0.089)			6	53					0	0	0.004482	0	0
STAT2	6773	broad.mit.edu	37	12	56744927	56744927	+	Missense_Mutation	SNP	C	C	T	rs149666262		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:56744927C>T	ENST00000314128.4	-	10	1012	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	STAT2_ENST00000557235.1_Missense_Mutation_p.R326Q|STAT2_ENST00000418572.2_Missense_Mutation_p.R326Q			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	330					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.R330Q(3)		NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GATGAGGGGTCGATGGGGAGT	0.507000													33	169					0	0	0.006999	0	0
PPP6R3	55291	broad.mit.edu	37	11	68326137	68326137	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:68326137C>T	ENST00000393799.2	+	8	1102	c.835C>T	c.(835-837)Cga>Tga	p.R279*	PPP6R3_ENST00000393800.2_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000529710.1_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000393801.3_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000265636.5_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000524904.1_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000265637.4_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000527403.2_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000524845.1_Nonsense_Mutation_p.R279*			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	279					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ACTTGAGACACGACGACCAAC	0.348000													5	113					0	0	0.001168	0	0
C2orf78	388960	broad.mit.edu	37	2	74042320	74042320	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:74042320G>C	ENST00000409561.1	+	3	1091	c.970G>C	c.(970-972)Gag>Cag	p.E324Q		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	324								p.E324Q(4)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCAGACACTTGAGAGTAACCC	0.463000													25	83					0	0	0.005443	0	0
AMER2	219287	broad.mit.edu	37	13	25743889	25743889	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr13:25743889G>T	ENST00000357816.2	-	3	1987	c.1512C>A	c.(1510-1512)ccC>ccA	p.P504P	AMER2_ENST00000381853.3_Silent_p.P504P|AMER2_ENST00000515384.1_Silent_p.P623P					APC membrane recruitment protein 2									p.P623P(2)|p.P504P(2)									GGTGCACCACGGGATGGCTAG	0.562000													54	202					1.19403e-26	1.50851e-26	0.003610	1	0
CD59	966	broad.mit.edu	37	11	33743968	33743968	+	Silent	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:33743968G>C	ENST00000395850.3	-	2	99	c.24C>G	c.(22-24)gtC>gtG	p.V8V	CD59_ENST00000351554.3_Silent_p.V8V|CD59_ENST00000533403.1_Silent_p.V8V|CD59_ENST00000445143.2_Silent_p.V8V|CD59_ENST00000426650.2_Silent_p.V8V|CD59_ENST00000527577.1_Silent_p.V8V|CD59_ENST00000415002.2_Silent_p.V8V|CD59_ENST00000437761.2_Silent_p.V8V|CD59_ENST00000528700.1_Silent_p.V8V|CD59_ENST00000534312.1_Silent_p.V8V	NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2	NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1	P13987	CD59_HUMAN	CD59 molecule, complement regulatory protein	8					blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction		p.V8V(2)		endometrium(1)|lung(2)	3						GCCCGAACAGGACAGACCCTC	0.537000													5	74					0	0	0.001168	0	0
PAPSS1	9061	broad.mit.edu	37	4	108552995	108552995	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr4:108552995G>A	ENST00000265174.4	-	11	1800	c.1528C>T	c.(1528-1530)Cgg>Tgg	p.R510W		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	510					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	p.R510W(1)		NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		GCAACCATCCGTGCTCTGCAA	0.418000													4	57					0	0	0.000602	0	0
ANAPC1	64682	broad.mit.edu	37	2	112604723	112604723	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:112604723G>C	ENST00000341068.3	-	16	2616	c.1844C>G	c.(1843-1845)tCt>tGt	p.S615C		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	615					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm		p.S615C(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						ACCTAACTCAGAGGTGGCAAT	0.328000													6	88					0	0	0.001984	0	0
AMN	81693	broad.mit.edu	37	14	103390271	103390271	+	Splice_Site	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr14:103390271G>A	ENST00000299155.5	+	3	195		c.e3-1			NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein						lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane		p.?(1)		kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTTCCTGCAGATGGTGTCAG	0.667000													46	153					0	0	0.003610	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090800	115090800	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr13:115090800G>A	ENST00000361283.1	+	3	1792	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	495	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	p.E495K(2)									TGTCTTCCCTGAGACCCGAAA	0.493000													114	380					0	0	0.003610	0	0
SULT1B1	27284	broad.mit.edu	37	4	70596267	70596267	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr4:70596267G>A	ENST00000310613.2	-	7	1027	c.730C>T	c.(730-732)Cta>Tta	p.L244L		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	244					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		p.L244L(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GTAGTTGGTAGATGTGTATAA	0.358000													15	128					0	0	0.004007	0	0
OR2W5	441932	broad.mit.edu	37	1	247655162	247655162	+	RNA	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:247655162C>A	ENST00000522351.1	+	0	793							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P245T(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCTCTTCTCACCTCACAGTGG	0.542000													44	253					2.40228e-13	2.89215e-13	0.003214	1	0
GPATCH1	55094	broad.mit.edu	37	19	33600726	33600726	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:33600726G>T	ENST00000170564.2	+	11	1703	c.1389G>T	c.(1387-1389)agG>agT	p.R463S		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	463						catalytic step 2 spliceosome	nucleic acid binding	p.R463S(2)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TCAAGGCCAGGAGTCTGGCCC	0.542000													26	247					1.04121e-07	1.19273e-07	0.005443	1	0
PKHD1	5314	broad.mit.edu	37	6	51889442	51889442	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:51889442G>A	ENST00000371117.3	-	32	5441	c.5166C>T	c.(5164-5166)atC>atT	p.I1722I	PKHD1_ENST00000340994.4_Silent_p.I1722I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1722	IPT/TIG 12; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.I1722I(4)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCCACCCTCTGATGCAGTCAT	0.532000													14	153					0	0	0.002450	0	0
GOLGA4	2803	broad.mit.edu	37	3	37396655	37396655	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:37396655G>T	ENST00000361924.2	+	22	7014	c.6640G>T	c.(6640-6642)Gaa>Taa	p.E2214*	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.E2229*	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2214	GRIP.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	p.L2213_E2214>F*(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAAAATTTTGGAAAGAGAAGA	0.383000													20	106					1.28384e-07	1.45977e-07	0.001882	1	0
RPL22	6146	broad.mit.edu	37	1	6253091	6253091	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:6253091G>C	ENST00000234875.4	-	3	179	c.141C>G	c.(139-141)atC>atG	p.I47M	RPL22_ENST00000484532.1_Missense_Mutation_p.I14M|RPL22_ENST00000497965.1_Missense_Mutation_p.I14M	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	47					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome	p.I47M(2)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CGTTCACTTTGATCCTTTCTT	0.438000			T	RUNX1	"""AML, CML"""								11	146					0	0	0.001368	0	0
RYR3	6263	broad.mit.edu	37	15	34145245	34145245	+	Splice_Site	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr15:34145245G>T	ENST00000389232.4	+	95	13698		c.e95-1		RYR3_ENST00000415757.3_Splice_Site|RYR3_ENST00000559917.1_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.?(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGTTTTTCAGATCTTTTCCT	0.383000													5	24					4.096e-09	4.8179e-09	0.001168	1	0
ZNF597	146434	broad.mit.edu	37	16	3490921	3490921	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:3490921A>G	ENST00000301744.4	-	3	281	c.46T>C	c.(46-48)Ttt>Ctt	p.F16L	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	16	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F16L(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						AGATCCTCAAAGAGTATTGGT	0.498000													16	110					0	0	0.003163	0	0
CACNA1F	778	broad.mit.edu	37	X	49086776	49086776	+	Silent	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:49086776T>A	ENST00000376265.2	-	6	784	c.723A>T	c.(721-723)gcA>gcT	p.A241A	CACNA1F_ENST00000376251.1_Silent_p.A176A|CACNA1F_ENST00000323022.5_Silent_p.A241A	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	241					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.A241A(2)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GCACGAGCAGTGCAATGTGCA	0.557000													12	10					0	0	0.001855	0	0
GTF2I	2969	broad.mit.edu	37	7	74114631	74114631	+	Missense_Mutation	SNP	G	G	A	rs145729076		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:74114631G>A	ENST00000324896.4	+	5	817	c.428G>A	c.(427-429)cGa>cAa	p.R143Q	AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000416070.1_Missense_Mutation_p.R143Q|GTF2I_ENST00000346152.4_Missense_Mutation_p.R143Q|GTF2I_ENST00000353920.4_Missense_Mutation_p.R143Q|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000443166.1_Missense_Mutation_p.R143Q|AC083884.8_ENST00000594967.1_RNA	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	143					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R143Q(2)		NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AAGATGCTGCGAGACCAGTCG	0.478000													15	298					0	0	0.006122	0	0
SP140	11262	broad.mit.edu	37	2	231109762	231109762	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:231109762G>A	ENST00000392045.3	+	6	745	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	SP140_ENST00000417495.3_Missense_Mutation_p.E211K|SP140_ENST00000486687.2_Missense_Mutation_p.E211K|SP140_ENST00000343805.6_Missense_Mutation_p.E211K|SP140_ENST00000420434.3_Missense_Mutation_p.E211K|SP140_ENST00000350136.5_Missense_Mutation_p.E191K	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	211					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E211K(2)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGGAGATGCTGAAGATGCACC	0.448000													9	94					0	0	0.000978	0	0
RPL11	6135	broad.mit.edu	37	1	24021184	24021184	+	Missense_Mutation	SNP	C	C	T	rs11556036		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:24021184C>T	ENST00000374550.3	+	4	344	c.299C>T	c.(298-300)tCa>tTa	p.S100L	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	100					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	p.S100L(2)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		AACAACTTCTCAGATACTGGA	0.438000													33	123					0	0	0.009535	0	0
UTRN	7402	broad.mit.edu	37	6	145103245	145103245	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:145103245C>G	ENST00000367545.3	+	60	8820	c.8820C>G	c.(8818-8820)ctC>ctG	p.L2940L	UTRN_ENST00000367526.4_Silent_p.L495L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2940	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.L2940L(2)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATTGGTTGCTCAATGTCTATG	0.323000													9	54					0	0	0.008291	0	0
GC	2638	broad.mit.edu	37	4	72634141	72634141	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr4:72634141G>T	ENST00000273951.8	-	3	481	c.138C>A	c.(136-138)gtC>gtA	p.V46V	GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Silent_p.V46V|GC_ENST00000504199.1_Silent_p.V65V	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	46	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	p.V65V(2)|p.V46V(2)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TACTGTACAGGACTAGTGACC	0.468000													9	53					3.86212e-05	4.24972e-05	0.008291	1	0
IL1RAPL1	11141	broad.mit.edu	37	X	29972752	29972752	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:29972752G>C	ENST00000378993.1	+	10	1988	c.1315G>C	c.(1315-1317)Gaa>Caa	p.E439Q	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.E439Q	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	439	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.E439Q(4)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGATATGCTTGAAAAGCATTA	0.373000													27	34					0	0	0.007291	0	0
SLC12A7	10723	broad.mit.edu	37	5	1089245	1089245	+	Splice_Site	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:1089245T>A	ENST00000264930.5	-	4	386		c.e4-2			NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7						potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	p.?(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCGCGGAGCCTGCGACAGAGC	0.682000													23	251					0	0	0.001882	0	0
STAG3	10734	broad.mit.edu	37	7	99786150	99786150	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:99786150G>A	ENST00000426455.1	+	6	915	c.508G>A	c.(508-510)Gag>Aag	p.E170K	STAG3_ENST00000394018.2_Intron|STAG3_ENST00000317296.5_Missense_Mutation_p.E170K			Q9UJ98	STAG3_HUMAN	stromal antigen 3	170					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	p.E170K(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGTTTAATGAGGTGGAAGA	0.413000													74	410					0	0	0.003610	0	0
CCDC90B	60492	broad.mit.edu	37	11	82985720	82985720	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:82985720C>G	ENST00000529689.1	-	4	822	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	CCDC90B_ENST00000525503.1_Missense_Mutation_p.E29Q|CCDC90B_ENST00000529611.1_Missense_Mutation_p.E29Q|CCDC90B_ENST00000529073.1_Missense_Mutation_p.E130Q|CCDC90B_ENST00000455220.2_Missense_Mutation_p.E121Q			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	130						integral to membrane|mitochondrion		p.E130Q(2)		kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TCACTTTTCTCTAGGATGACC	0.308000													13	49					0	0	0.004007	0	0
MLH1	4292	broad.mit.edu	37	3	37059088	37059088	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:37059088C>T	ENST00000231790.2	+	10	1098	c.882C>T	c.(880-882)ctC>ctT	p.L294L	MLH1_ENST00000458205.2_Silent_p.L53L|MLH1_ENST00000539477.1_Silent_p.L53L|MLH1_ENST00000455445.2_Silent_p.L53L|MLH1_ENST00000435176.1_Silent_p.L196L|MLH1_ENST00000536378.1_Silent_p.L53L	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	294			Missing (in HNPCC2).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.L294L(2)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TCCTGTACCTCAGGTAATGTA	0.418000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				29	112					0	0	0.008361	0	0
PCMTD2	55251	broad.mit.edu	37	20	62896764	62896764	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr20:62896764C>T	ENST00000308824.6	+	4	691	c.564C>T	c.(562-564)gtC>gtT	p.V188V	PCMTD2_ENST00000369758.3_Silent_p.V188V|PCMTD2_ENST00000299468.7_Silent_p.V188V	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	188						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	p.V188V(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGATCCTTGTCATGCCACTGG	0.468000													20	100					0	0	0.007413	0	0
ZNF546	339327	broad.mit.edu	37	19	40519640	40519640	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:40519640C>G	ENST00000347077.4	+	7	679	c.463C>G	c.(463-465)Caa>Gaa	p.Q155E	ZNF546_ENST00000600094.1_Missense_Mutation_p.Q129E|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q155E(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTATTTATCTCAATTGCAGAC	0.313000													21	210					0	0	0.010504	0	0
COBL	23242	broad.mit.edu	37	7	51261203	51261203	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:51261203G>A	ENST00000395542.2	-	3	513	c.329C>T	c.(328-330)tCa>tTa	p.S110L	COBL_ENST00000265136.7_Missense_Mutation_p.S110L|COBL_ENST00000395540.2_Missense_Mutation_p.S110L|COBL_ENST00000441453.1_Missense_Mutation_p.S110L			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	110								p.S110L(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTGGGTTTCTGAAGACCGAAT	0.423000													22	87					0	0	0.002299	0	0
EPAS1	2034	broad.mit.edu	37	2	46608818	46608818	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:46608818G>A	ENST00000263734.3	+	13	2639	c.2129G>A	c.(2128-2130)cGa>cAa	p.R710Q		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	710					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	p.R710Q(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AAGCTGAAGCGACAGCTGGAG	0.617000													17	106					0	0	0.006122	0	0
ZNF507	22847	broad.mit.edu	37	19	32844370	32844370	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:32844370C>G	ENST00000311921.3	+	2	826	c.634C>G	c.(634-636)Cca>Gca	p.P212A	ZNF507_ENST00000544431.1_Missense_Mutation_p.P212A|ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Missense_Mutation_p.P212A	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P212A(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TGAAACCATTCCAGATATCCC	0.453000													19	196					0	0	0.006122	0	0
MYCBP2	23077	broad.mit.edu	37	13	77759506	77759506	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr13:77759506C>G	ENST00000407578.2	-	32	4717	c.4451G>C	c.(4450-4452)gGa>gCa	p.G1484A	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.G1446A|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G1446A	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.G1446A(4)|p.G1484A(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AACTGCTTTTCCTGTAGCTTT	0.323000													42	169					0	0	0.002852	0	0
BAX	581	broad.mit.edu	37	19	49459574	49459574	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:49459574G>T	ENST00000293288.8	+	4	353	c.353G>T	c.(352-354)aGc>aTc	p.S118I	BAX_ENST00000391871.3_3'UTR|BAX_ENST00000539787.1_Missense_Mutation_p.S118I|BAX_ENST00000415969.2_Missense_Mutation_p.S118I|BAX_ENST00000354470.3_Missense_Mutation_p.S69I|BAX_ENST00000345358.7_Missense_Mutation_p.S118I	NM_004324.3	NP_004315.1	Q07812	BAX_HUMAN	BCL2-associated X protein	118					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity	p.S118I(4)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		TACTTTGCCAGCAAACTGGTG	0.587000													30	99					7.26314e-15	8.91914e-15	0.007291	1	0
FXR1	8087	broad.mit.edu	37	3	180671582	180671582	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:180671582C>T	ENST00000357559.4	+	9	1218	c.834C>T	c.(832-834)ttC>ttT	p.F278F	FXR1_ENST00000445140.2_Silent_p.F278F|FXR1_ENST00000491062.1_Silent_p.F229F|FXR1_ENST00000305586.7_Silent_p.F193F|FXR1_ENST00000468861.1_Silent_p.F193F|FXR1_ENST00000480918.1_Silent_p.F265F	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	278					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		p.F278F(2)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			CTAGAGGTTTCTTGGAATTTG	0.338000													47	152					0	0	0.003610	0	0
HEPH	9843	broad.mit.edu	37	X	65476147	65476147	+	Silent	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:65476147T>A	ENST00000519389.1	+	17	3212	c.3033T>A	c.(3031-3033)acT>acA	p.T1011T	HEPH_ENST00000419594.1_Silent_p.T768T|HEPH_ENST00000374727.3_Silent_p.T960T|HEPH_ENST00000441993.2_Silent_p.T960T|HEPH_ENST00000343002.2_Silent_p.T957T|HEPH_ENST00000336279.5_Silent_p.T690T			Q9BQS7	HEPH_HUMAN	hephaestin	957	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.T957T(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGGATGAAACTTTCTTGGAGA	0.398000													4	71					0	0	0.009096	0	0
NPPA	4878	broad.mit.edu	37	1	11907671	11907671	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:11907671C>G	ENST00000376480.3	-	1	169	c.71G>C	c.(70-72)aGa>aCa	p.R24T	NPPA-AS1_ENST00000400892.2_RNA|NPPA_ENST00000376476.1_Intron|NPPA-AS1_ENST00000446542.1_RNA	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	24					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity	p.R24T(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGATTAGCTCTGGTCTGACC	0.562000													28	273					0	0	0.007291	0	0
CRHR1	1394	broad.mit.edu	37	17	43912048	43912048	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:43912048C>A	ENST00000314537.5	+	13	1391	c.1166C>A	c.(1165-1167)gCc>gAc	p.A389D	CRHR1_ENST00000293493.7_Missense_Mutation_p.A214D|CRHR1_ENST00000577353.1_Missense_Mutation_p.A375D|CRHR1_ENST00000398285.3_Missense_Mutation_p.A418D|CRHR1_ENST00000352855.5_Missense_Mutation_p.A349D|CRHR1_ENST00000339069.5_Missense_Mutation_p.P243T	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	418					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	p.A389D(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TCGATCCGTGCCCGAGTGGCC	0.632000													9	103					0.00829132	0.00877736	0.008291	1	0
TSC22D2	9819	broad.mit.edu	37	3	150128747	150128747	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:150128747A>T	ENST00000361875.2	+	1	2626	c.1610A>T	c.(1609-1611)cAg>cTg	p.Q537L	TSC22D2_ENST00000361136.2_Missense_Mutation_p.Q537L	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	537							sequence-specific DNA binding transcription factor activity	p.Q537L(2)		cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CCTCTGGCCCAGTCGCAACAG	0.602000													14	77					0	0	0.004990	0	0
TIFAB	497189	broad.mit.edu	37	5	134785284	134785284	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:134785284C>T	ENST00000537858.1	-	2	546	c.346G>A	c.(346-348)Gta>Ata	p.V116I		NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	TRAF-interacting protein with forkhead-associated domain, family member B	116										breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCTTCTTCTACGCGAACCAGC	0.557000													6	327					0	0	0.001984	0	0
RTEL1	51750	broad.mit.edu	37	20	62321110	62321110	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr20:62321110C>G	ENST00000318100.4	+	24	2860	c.2033C>G	c.(2032-2034)tCt>tGt	p.S678C	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.S678C|RTEL1_ENST00000370018.3_Missense_Mutation_p.S678C|RTEL1_ENST00000360203.5_Missense_Mutation_p.S678C|RTEL1_ENST00000508582.2_Missense_Mutation_p.S702C			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	678					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	p.S678C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CAGTTCCTCTCTGGGCAGGAG	0.697000													4	55					0	0	0.001168	0	0
CACNA1E	777	broad.mit.edu	37	1	181480642	181480642	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:181480642A>G	ENST00000526775.1	+	3	673	c.508A>G	c.(508-510)Agt>Ggt	p.S170G	CACNA1E_ENST00000367573.2_Missense_Mutation_p.S170G|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S170G|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S170G|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S121G|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S121G	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	170					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.S170G(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGTGGTCCTCAGTGGGTAAGT	0.522000													48	206					0	0	0.003610	0	0
SZT2	23334	broad.mit.edu	37	1	43893319	43893319	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:43893319C>T	ENST00000562955.1	+	25	3546	c.3546C>T	c.(3544-3546)gtC>gtT	p.V1182V	SZT2_ENST00000372442.1_Silent_p.V340V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1239						peroxisome		p.V340V(4)|p.V1182V(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGTGTCCTGTCTACATCTACA	0.602000													19	140					0	0	0.007413	0	0
PIGX	54965	broad.mit.edu	37	3	196460684	196460684	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:196460684C>G	ENST00000314118.4	+	6	847	c.565C>G	c.(565-567)Cta>Gta	p.L189V	PIGX_ENST00000541663.1_Missense_Mutation_p.L140V	NM_017861.3	NP_060331.3	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	230					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane		p.L189V(2)		endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		ACATACCTCTCTAGTATGTTC	0.378000													37	96					0	0	0.004289	0	0
CPA3	1359	broad.mit.edu	37	3	148596502	148596502	+	Silent	SNP	T	T	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:148596502T>C	ENST00000296046.3	+	5	493	c.441T>C	c.(439-441)tcT>tcC	p.S147S	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	147					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	p.S147S(2)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AAATTGGATCTACTGTTGAAG	0.299000													21	98					0	0	0.002299	0	0
DHRS9	10170	broad.mit.edu	37	2	169938312	169938312	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:169938312C>T	ENST00000327239.4	+	5	1725	c.221C>T	c.(220-222)tCa>tTa	p.S74L	DHRS9_ENST00000602501.1_Missense_Mutation_p.S74L|DHRS9_ENST00000436483.2_Missense_Mutation_p.S74L|DHRS9_ENST00000432060.2_Missense_Mutation_p.S134L|DHRS9_ENST00000428522.1_Missense_Mutation_p.S74L|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000412271.1_Missense_Mutation_p.S74L|DHRS9_ENST00000357546.2_Missense_Mutation_p.S74L	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	74					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity	p.S74L(2)		breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GCAGAAACCTCAGAGAGACTT	0.468000													11	89					0	0	0.008291	0	0
BRD1	23774	broad.mit.edu	37	22	50192686	50192686	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr22:50192686G>A	ENST00000216267.8	-	3	2092	c.1606C>T	c.(1606-1608)Cgc>Tgc	p.R536C	BRD1_ENST00000404760.1_Missense_Mutation_p.R536C|BRD1_ENST00000342989.5_Missense_Mutation_p.R131C|BRD1_ENST00000542442.1_Missense_Mutation_p.R229C|BRD1_ENST00000457780.2_Missense_Mutation_p.R536C|BRD1_ENST00000404034.1_Missense_Mutation_p.R536C	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	536					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	p.R536C(2)|p.R131C(2)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ATCAGCAGGCGAGCGCGCTCC	0.622000													5	36					0	0	0.000602	0	0
UNC5B	219699	broad.mit.edu	37	10	73053578	73053578	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr10:73053578C>G	ENST00000335350.6	+	13	2479	c.2063C>G	c.(2062-2064)tCc>tGc	p.S688C	UNC5B_ENST00000373192.4_Missense_Mutation_p.S677C	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	688					apoptosis|axon guidance|regulation of apoptosis	integral to membrane		p.S688C(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GAGTCCTATTCCCGCTCAGCA	0.657000													6	21					0	0	0.001984	0	0
TTC23	64927	broad.mit.edu	37	15	99696503	99696503	+	Splice_Site	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr15:99696503C>T	ENST00000394132.2	-	12	1811		c.e12-1		TTC23_ENST00000558613.1_Splice_Site|TTC23_ENST00000262074.4_Splice_Site|TTC23_ENST00000394129.2_Splice_Site|TTC23_ENST00000558663.1_Splice_Site|TTC23_ENST00000394130.1_Splice_Site|TTC23_ENST00000394135.3_Splice_Site|TTC23_ENST00000394136.1_Splice_Site			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23								binding	p.?(2)		endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			AGGTTGCTCTCTGTGAAAGGA	0.488000													15	50					0	0	0.003163	0	0
TBC1D31	93594	broad.mit.edu	37	8	124146378	124146378	+	Missense_Mutation	SNP	G	G	A	rs144947635	byFrequency	TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:124146378G>A	ENST00000287380.1	+	17	2521	c.2431G>A	c.(2431-2433)Gct>Act	p.A811T	TBC1D31_ENST00000518805.1_Missense_Mutation_p.A365T|TBC1D31_ENST00000378080.2_3'UTR|TBC1D31_ENST00000327098.5_Intron|TBC1D31_ENST00000309336.3_Missense_Mutation_p.A811T|TBC1D31_ENST00000522420.1_Missense_Mutation_p.A706T|TBC1D31_ENST00000521676.1_Missense_Mutation_p.A688T	NM_145647.3	NP_663622.2			TBC1 domain family, member 31									p.A811T(2)									TCGAGAAATTGCTGCCACAGC	0.318000													15	122					0	0	0.006122	0	0
OR2L8	391190	broad.mit.edu	37	1	248112672	248112672	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:248112672G>T	ENST00000357191.3	+	1	513	c.513G>T	c.(511-513)agG>agT	p.R171S	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R171S(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GCCGATCCAGGGCCATCAATC	0.483000													56	230					2.27459e-33	2.93403e-33	0.003610	1	0
PHKB	5257	broad.mit.edu	37	16	47723058	47723058	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:47723058G>C	ENST00000455779.1	+	28	2901	c.2716G>C	c.(2716-2718)Gat>Cat	p.D906H	PHKB_ENST00000323584.5_Missense_Mutation_p.D913H|PHKB_ENST00000566044.1_Missense_Mutation_p.D906H|PHKB_ENST00000299167.8_Missense_Mutation_p.D913H			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	913					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	p.D913H(4)|p.D906H(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GCTTCTGCTGGATATTCTGCA	0.428000													23	108					0	0	0.002299	0	0
EVI5	7813	broad.mit.edu	37	1	93159385	93159385	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:93159385G>A	ENST00000370331.1	-	9	1212	c.1203C>T	c.(1201-1203)gtC>gtT	p.V401V	EVI5_ENST00000543509.1_Silent_p.V401V|EVI5_ENST00000540033.1_Silent_p.V401V	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	401	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	p.V401V(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		AATTGTATTTGACTTGGTAAG	0.308000													39	215					0	0	0.002522	0	0
BMP2K	55589	broad.mit.edu	37	4	79793823	79793823	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr4:79793823C>T	ENST00000335016.5	+	13	1830	c.1664C>T	c.(1663-1665)cCg>cTg	p.P555L	BMP2K_ENST00000502871.1_Missense_Mutation_p.P555L	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	555	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity	p.P555L(4)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						CAACATCAGCCGTCTCAACAA	0.443000													8	61					0	0	0.003080	0	0
RAB3IP	117177	broad.mit.edu	37	12	70133583	70133583	+	Translation_Start_Site	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:70133583G>A	ENST00000550536.1	+	0	414				RAB3IP_ENST00000378815.6_Intron|RAB3IP_ENST00000483530.2_Intron|RAB3IP_ENST00000362025.5_De_novo_Start_OutOfFrame|RAB3IP_ENST00000325555.9_Intron|RAB3IP_ENST00000247833.7_Intron	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein						cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CAGAAGTGATGATGCTGGGTG	0.547000													10	52					0	0	0.006214	0	0
TENM1	10178	broad.mit.edu	37	X	123870875	123870875	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:123870875G>T	ENST00000422452.2	-	4	771	c.708C>A	c.(706-708)acC>acA	p.T236T	TENM1_ENST00000371130.3_Silent_p.T236T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.T238T(2)									CCTGCGTGCTGGTTGGGGGAG	0.557000													34	184					5.43694e-19	6.81281e-19	0.005524	1	0
MTBP	27085	broad.mit.edu	37	8	121463465	121463465	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:121463465G>C	ENST00000305949.1	+	4	373	c.328G>C	c.(328-330)Gaa>Caa	p.E110Q		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	110					cell cycle arrest			p.E110Q(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AGATAAAATTGAAGATGTTCT	0.308000													15	48					0	0	0.003163	0	0
LNPEP	4012	broad.mit.edu	37	5	96350700	96350700	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:96350700G>A	ENST00000231368.5	+	13	2969	c.2277G>A	c.(2275-2277)gaG>gaA	p.E759E	LNPEP_ENST00000395770.3_Silent_p.E745E	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	759					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.E759E(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TTGGAAATGAGAACCATACTG	0.433000													34	172					0	0	0.003755	0	0
CNOT1	23019	broad.mit.edu	37	16	58580600	58580600	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:58580600C>T	ENST00000317147.5	-	28	4136	c.3804G>A	c.(3802-3804)gaG>gaA	p.E1268E	CNOT1_ENST00000245138.4_Silent_p.E119E|CNOT1_ENST00000569240.1_Silent_p.E1263E|CNOT1_ENST00000441024.2_Silent_p.E1268E	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1268					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.E1268E(4)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCTGATGTAGCTCAGCTAATA	0.388000													7	106					0	0	0.003080	0	0
DENND1B	163486	broad.mit.edu	37	1	197576259	197576259	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:197576259C>G	ENST00000235453.4	-	13	1052	c.775G>C	c.(775-777)Gat>Cat	p.D259H	DENND1B_ENST00000367396.3_Missense_Mutation_p.D289H|DENND1B_ENST00000400967.2_Missense_Mutation_p.D259H			Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	289	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	p.D289H(2)|p.D259H(2)		NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						GTGTTTGTATCAACATTTAAC	0.294000													9	62					0	0	0.008291	0	0
LOC101927905	101927905	broad.mit.edu	37	12	8388289	8388289	+	RNA	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:8388289G>A	ENST00000304751.9	+	0	279				FAM86FP_ENST00000427893.2_RNA														p.I124I(1)									CGTGAGAGATGATGGCTGTGC	0.592000													10	127					0	0	0.008291	0	0
SBSN	374897	broad.mit.edu	37	19	36017721	36017721	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:36017721C>A	ENST00000452271.2	-	1	1491	c.1463G>T	c.(1462-1464)gGg>gTg	p.G488V	SBSN_ENST00000518157.1_Missense_Mutation_p.G145V	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	145						extracellular region		p.G488V(2)|p.G145V(2)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGCTTCCTTCCCAGCCTGGTG	0.597000													23	152					1.22574e-08	1.43627e-08	0.002299	1	0
MED12	9968	broad.mit.edu	37	X	70352266	70352266	+	Silent	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:70352266C>A	ENST00000333646.6	+	31	4492	c.4293C>A	c.(4291-4293)ctC>ctA	p.L1431L	MED12_ENST00000478889.1_Intron|MED12_ENST00000374102.1_Silent_p.L1431L|MED12_ENST00000374080.3_Silent_p.L1431L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1431					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.L1431L(4)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGGCCCCCCTCATTGCTAAAC	0.557000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						13	29					7.93312e-07	8.88857e-07	0.002450	1	0
ABHD11	83451	broad.mit.edu	37	7	73150991	73150991	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:73150991G>A	ENST00000222800.3	-	6	915	c.846C>T	c.(844-846)ctC>ctT	p.L282L	ABHD11_ENST00000437775.2_Silent_p.L275L|ABHD11_ENST00000395147.4_Silent_p.L225L|ABHD11_ENST00000458339.1_3'UTR	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	282							hydrolase activity	p.L282L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCCGAGGGAAGAGCCGCATAA	0.607000													19	103					0	0	0.001882	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062972	76062972	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:76062972G>A	ENST00000260045.3	-	5	1327	c.1222C>T	c.(1222-1224)Ctt>Ttt	p.L408F		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	408					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	p.L408F(2)		cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TTCTGAAAAAGAACAGAAATT	0.383000													21	44					0	0	0.004656	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54914904	54914904	+	Splice_Site	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:54914904A>G	ENST00000293373.6	+	18	1839	c.1758_splice	c.e18-1	p.Y587_splice	NCKAP1L_ENST00000545638.2_Splice_Site_p.Y537_splice	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	587					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	p.Y587C(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TTCCCATAGTACCCCCACCTC	0.517000													39	156					0	0	0.006999	0	0
OR1C1	26188	broad.mit.edu	37	1	247920842	247920842	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:247920842G>T	ENST00000408896.2	-	1	1140	c.867C>A	c.(865-867)atC>atA	p.I289I		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I289I(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TTAGGGTATAGATGAAAGGAT	0.458000													24	142					9.86323e-18	1.22592e-17	0.003954	1	0
ST6GALNAC3	256435	broad.mit.edu	37	1	77094490	77094490	+	Nonstop_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:77094490G>C	ENST00000328299.3	+	5	1065	c.917G>C	c.(916-918)tGa>tCa	p.*306S		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	0					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.*306S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ACATTGTCTTGATAATGGTTT	0.398000													32	117					0	0	0.002836	0	0
RRAD	6236	broad.mit.edu	37	16	66958740	66958740	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:66958740C>G	ENST00000299759.6	-	2	593	c.343G>C	c.(343-345)Gag>Cag	p.E115Q	RRAD_ENST00000420652.1_Missense_Mutation_p.E115Q			P55042	RAD_HUMAN	Ras-related associated with diabetes	115					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity	p.E115Q(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GGCCCGTCCTCCACACCGCCG	0.682000													5	43					0	0	0.001168	0	0
SLC38A11	151258	broad.mit.edu	37	2	165755217	165755217	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:165755217G>T	ENST00000303735.4	-	10	1215	c.885C>A	c.(883-885)ctC>ctA	p.L295L	SLC38A11_ENST00000409149.3_Silent_p.L317L|SLC38A11_ENST00000409058.1_Silent_p.L348L|SLC38A11_ENST00000409662.1_Silent_p.L317L	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	317					amino acid transport|sodium ion transport	integral to membrane		p.L295L(2)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TGATAAAAATGAGGGGAGTTG	0.408000													5	74					0.000602214	0.000646433	0.000602	1	0
CETN3	1070	broad.mit.edu	37	5	89695226	89695226	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:89695226C>A	ENST00000283122.3	-	4	533	c.409G>T	c.(409-411)Gaa>Taa	p.E137*	CETN3_ENST00000522565.1_Nonsense_Mutation_p.E137*|CETN3_ENST00000522083.1_Nonsense_Mutation_p.E137*|CETN3_ENST00000522864.1_Intron	NM_004365.2	NP_004356.2	O15182	CETN3_HUMAN	centrin, EF-hand protein, 3	137	EF-hand 4.				cell division|centrosome cycle|mitosis	centriole	calcium ion binding	p.E137*(2)		lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		CGAAGTTCTTCATCACTCATG	0.358000													19	98					1.56452e-12	1.86891e-12	0.007413	1	0
TACC2	10579	broad.mit.edu	37	10	123970013	123970013	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr10:123970013G>C	ENST00000369005.1	+	9	6413	c.6073G>C	c.(6073-6075)Gat>Cat	p.D2025H	TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000368999.1_Missense_Mutation_p.D103H|TACC2_ENST00000515273.1_Missense_Mutation_p.D2029H|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000358010.1_Missense_Mutation_p.D171H|TACC2_ENST00000260733.3_Missense_Mutation_p.D103H|TACC2_ENST00000453444.2_Missense_Mutation_p.D2029H|TACC2_ENST00000515603.1_Missense_Mutation_p.D1980H|TACC2_ENST00000360561.3_Missense_Mutation_p.D103H|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000513429.1_Missense_Mutation_p.D171H|TACC2_ENST00000334433.3_Missense_Mutation_p.D2025H|TACC2_ENST00000369004.3_Missense_Mutation_p.D103H	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2025						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.D2025H(2)|p.D2025N(1)		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)				TGCCGTCTTCGATGAAGACAA	0.552000													13	24					0	0	0.001368	0	0
DSTN	11034	broad.mit.edu	37	20	17581487	17581487	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr20:17581487C>T	ENST00000246069.6	+	2	454	c.108C>T	c.(106-108)gtC>gtT	p.V36V	DSTN_ENST00000474024.1_3'UTR|DSTN_ENST00000543261.1_Silent_p.V19V	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	36	ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding	p.V36V(2)		endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AGAAGGCTGTCATTTTTTGTC	0.393000													34	78					0	0	0.002836	0	0
TMEM8C	389827	broad.mit.edu	37	9	136380685	136380685	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr9:136380685G>T	ENST00000339996.3	-	4	545	c.444C>A	c.(442-444)agC>agA	p.S148R	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	148						integral to membrane		p.S148R(2)		NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						GGGTGTAGACGCTCTTGTCTG	0.597000													18	75					2.37509e-13	2.87068e-13	0.010504	1	0
TEX264	51368	broad.mit.edu	37	3	51718530	51718530	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:51718530C>T	ENST00000415259.1	+	3	1441	c.360C>T	c.(358-360)ttC>ttT	p.F120F	TEX264_ENST00000341333.5_Silent_p.F120F|TEX264_ENST00000416589.1_Silent_p.F120F|TEX264_ENST00000395057.1_Silent_p.F120F|TEX264_ENST00000463857.1_3'UTR|TEX264_ENST00000457573.1_Silent_p.F120F			Q9Y6I9	TX264_HUMAN	testis expressed 264	120						extracellular region		p.F120F(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		AATTTGGCTTCAAGGTGTTCT	0.592000													10	93					0	0	0.008291	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110476724	110476724	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:110476724G>A	ENST00000378402.5	+	49	7767	c.7663G>A	c.(7663-7665)Gat>Aat	p.D2555N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2555					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.D2557N(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTTCTGAATGATGATGTGAC	0.443000										HNSCC(38;0.096)			14	79					0	0	0.001855	0	0
CD97	976	broad.mit.edu	37	19	14507264	14507264	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:14507264G>C	ENST00000242786.5	+	5	537	c.457G>C	c.(457-459)Gag>Cag	p.E153Q	CD97_ENST00000358600.3_Intron|CD97_ENST00000357355.3_Missense_Mutation_p.E153Q|CD97_ENST00000587728.1_Intron	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	153	EGF-like 3; calcium-binding (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.E153Q(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GTTCATACCTGAGGATCCGAA	0.597000													15	80					0	0	0.002780	0	0
SNHG14	104472715	broad.mit.edu	37	15	25420074	25420074	+	RNA	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr15:25420074G>A	ENST00000441592.2	+	0	179				SNORD115-3_ENST00000363100.1_RNA																							GCCCTGGGTTGGGTCAATGAT	0.512000													64	264					0	0	0.003610	0	0
BCAS3	54828	broad.mit.edu	37	17	58946004	58946004	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:58946004C>G	ENST00000589222.1	+	8	612	c.544C>G	c.(544-546)Caa>Gaa	p.Q182E	BCAS3_ENST00000407086.3_Missense_Mutation_p.Q182E|BCAS3_ENST00000390652.5_Missense_Mutation_p.Q182E|BCAS3_ENST00000588462.1_Missense_Mutation_p.Q182E|BCAS3_ENST00000408905.3_Missense_Mutation_p.Q182E			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	182						nucleus		p.Q182E(2)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CAAGTCCATTCAATTTAAGAC	0.373000													23	81					0	0	0.006320	0	0
PLD5	200150	broad.mit.edu	37	1	242271010	242271010	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:242271010G>T	ENST00000442594.2	-	9	1435	c.926C>A	c.(925-927)gCg>gAg	p.A309E	PLD5_ENST00000427495.1_Missense_Mutation_p.A339E|PLD5_ENST00000536534.1_Missense_Mutation_p.A401E	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	401						integral to membrane	catalytic activity	p.A309E(2)|p.A401E(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AGTGCAAATCGCTTTAAGAGA	0.368000													50	191					2.74695e-27	3.49923e-27	0.003610	1	0
MYCBP2	23077	broad.mit.edu	37	13	77760049	77760049	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr13:77760049C>G	ENST00000407578.2	-	31	4667	c.4401G>C	c.(4399-4401)ctG>ctC	p.L1467L	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Silent_p.L1429L|MYCBP2_ENST00000357337.6_Silent_p.L1429L	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.L1429L(4)|p.L1467L(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCAATAACCTCAGACAACAGG	0.383000													12	71					0	0	0.002450	0	0
GRK6	2870	broad.mit.edu	37	5	176859748	176859748	+	Silent	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:176859748G>C	ENST00000355472.5	+	5	549	c.381G>C	c.(379-381)acG>acC	p.T127T	GRK6_ENST00000528793.1_Silent_p.T127T|GRK6_ENST00000507633.1_Silent_p.T127T|GRK6_ENST00000393576.3_Silent_p.T127T|GRK6_ENST00000355958.5_Silent_p.T127T	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	127	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.T127T(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTGGTGACGAACTGCACCC	0.632000													4	42					0	0	0.001984	0	0
BRAF	673	broad.mit.edu	37	7	140453193	140453193	+	Splice_Site	SNP	T	T	C	rs121913370		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:140453193T>C	ENST00000288602.6	-	15	1802	c.1741_splice	c.e15-1	p.N581_splice		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	581	Protein kinase.		N -> D (in CFC syndrome).|N -> S (in a colorectal adenocarcinoma sample; somatic mutation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.N581S(9)|p.N581I(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	AAGAAATATATCTGAGGTGTA	0.358000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				44	77					0	0	0.003610	0	0
LGR4	55366	broad.mit.edu	37	11	27389919	27389919	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:27389919G>A	ENST00000379214.4	-	18	2794	c.2351C>T	c.(2350-2352)tCt>tTt	p.S784F	LGR4_ENST00000389858.4_Missense_Mutation_p.S760F	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	784						integral to membrane|plasma membrane	protein-hormone receptor activity	p.S784F(2)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CAGAGTAACAGACTTCATTAT	0.403000													16	111					0	0	0.004007	0	0
ATN1	1822	broad.mit.edu	37	12	7045360	7045360	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:7045360C>G	ENST00000356654.4	+	5	1167	c.930C>G	c.(928-930)ctC>ctG	p.L310L	ATN1_ENST00000396684.2_Silent_p.L310L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	310					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	p.L310L(2)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGAGACCCCTCAACAATGCAT	0.637000													19	143					0	0	0.010504	0	0
CCDC87	55231	broad.mit.edu	37	11	66358453	66358453	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:66358453C>T	ENST00000333861.3	-	1	2101	c.2034G>A	c.(2032-2034)ctG>ctA	p.L678L		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	678								p.L678L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TCTGCAGGCTCAGAATTTTGT	0.532000													48	118					0	0	0.003610	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46120223	46120223	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:46120223C>T	ENST00000355105.3	-	6	1829	c.469G>A	c.(469-471)Gag>Aag	p.E157K	GPBP1L1_ENST00000290795.3_Missense_Mutation_p.E157K	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.E157K(2)	GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					ACAAAGTCCTCCTCTTCAAAC	0.388000													13	141					0	0	0.004007	0	0
RYR1	6261	broad.mit.edu	37	19	39025783	39025783	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:39025783G>C	ENST00000355481.4	+	79	11478	c.11347G>C	c.(11347-11349)Gag>Cag	p.E3783Q	RYR1_ENST00000360985.3_Missense_Mutation_p.E3788Q|RYR1_ENST00000359596.3_Missense_Mutation_p.E3788Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3788					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.E3788Q(2)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCTCCAGGAGAGACAGGTGC	0.557000													13	109					0	0	0.001855	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810208	106810208	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:106810208G>A	ENST00000526355.1	-	4	1652	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.S395F|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.S395F	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	395					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.S395F(2)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TTCAGAGCCAGAAGCCTCAGG	0.438000													24	233					0	0	0.002780	0	0
ABCA12	26154	broad.mit.edu	37	2	215919366	215919366	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:215919366T>A	ENST00000272895.7	-	4	559	c.340A>T	c.(340-342)Aac>Tac	p.N114Y		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	114					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.N114Y(2)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTATCCAGGTTGGATGACTTT	0.393000													27	231					0	0	0.006320	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768409	31768409	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:31768409C>A	ENST00000240587.4	-	2	2617	c.2290G>T	c.(2290-2292)Gcc>Tcc	p.A764S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	764					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A581S(2)|p.A764S(2)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGCGGGGTGGCCACAGCAGCC	0.602000													14	241					3.45872e-05	3.83331e-05	0.004007	1	0
ABCA13	154664	broad.mit.edu	37	7	48349715	48349715	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:48349715G>C	ENST00000435803.1	+	24	9517	c.9493G>C	c.(9493-9495)Gat>Cat	p.D3165H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3165					transport	integral to membrane	ATP binding|ATPase activity	p.D3165H(2)|p.D3110H(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCGAAACTTGGATGTGCGAGC	0.502000													42	367					0	0	0.003214	0	0
OLFM4	10562	broad.mit.edu	37	13	53624648	53624648	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr13:53624648G>T	ENST00000219022.2	+	5	1353	c.1275G>T	c.(1273-1275)caG>caT	p.Q425H		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	425	Olfactomedin-like.				cell adhesion	extracellular space		p.Q425H(2)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ATACCAAGCAGTATAAACCAT	0.408000													15	133					4.14922e-12	4.93725e-12	0.004007	1	0
PLCL1	5334	broad.mit.edu	37	2	198949863	198949863	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:198949863G>T	ENST00000428675.1	+	2	2020	c.1622G>T	c.(1621-1623)gGa>gTa	p.G541V	PLCL1_ENST00000437704.2_Missense_Mutation_p.G443V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	541	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.G541V(2)|p.G443V(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATTGTGAAAGGAAAGAAGTTG	0.388000													10	93					1.76689e-08	2.04693e-08	0.006214	1	0
NIPAL4	348938	broad.mit.edu	37	5	156899773	156899773	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:156899773C>G	ENST00000311946.7	+	6	1322	c.1206C>G	c.(1204-1206)ttC>ttG	p.F402L	NIPAL4_ENST00000435489.2_Missense_Mutation_p.F383L|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	402						integral to membrane	receptor activity	p.F340L(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						TGGGCGTGTTCATGCTGCATG	0.547000													15	95					0	0	0.004007	0	0
CPS1	1373	broad.mit.edu	37	2	211542708	211542708	+	Nonstop_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:211542708A>G	ENST00000233072.5	+	38	4698	c.4502A>G	c.(4501-4503)tAg>tGg	p.*1501W	CPS1_ENST00000430249.2_Nonstop_Mutation_p.*1507W|CPS1_ENST00000451903.2_Nonstop_Mutation_p.*1050W	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	0					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.*1501W(2)|p.*1507W(2)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AAAGCAGCATAGAGATGCAGA	0.433000													51	204					0	0	0.003610	0	0
ELOVL5	60481	broad.mit.edu	37	6	53156718	53156718	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:53156718G>A	ENST00000542638.1	-	3	549	c.102C>T	c.(100-102)ccC>ccT	p.P34P	ELOVL5_ENST00000370918.4_Silent_p.P34P|ELOVL5_ENST00000486973.1_5'UTR|ELOVL5_ENST00000541407.1_Silent_p.P34P|ELOVL5_ENST00000304434.6_Silent_p.P34P			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	34					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	p.P34P(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					AGATAAATGTGGGTATATAAT	0.318000													11	123					0	0	0.001855	0	0
GPR183	1880	broad.mit.edu	37	13	99947431	99947431	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr13:99947431C>G	ENST00000376414.4	-	2	1052	c.969G>C	c.(967-969)ctG>ctC	p.L323L	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	323					humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.L323L(2)		cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						CTTGCCGTTTCAGCATCCTCA	0.408000													26	129					0	0	0.003954	0	0
SEZ6L	23544	broad.mit.edu	37	22	26771546	26771546	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr22:26771546G>A	ENST00000529632.2	+	14	2996	c.2800G>A	c.(2800-2802)Gaa>Aaa	p.E934K	SEZ6L_ENST00000403121.1_Missense_Mutation_p.E641K|SEZ6L_ENST00000404234.3_Missense_Mutation_p.E944K|SEZ6L_ENST00000402979.1_Missense_Mutation_p.E717K|SEZ6L_ENST00000411842.2_Intron|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.E870K|SEZ6L_ENST00000343706.4_Missense_Mutation_p.E869K|SEZ6L_ENST00000248933.6_Missense_Mutation_p.E945K	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	945						endoplasmic reticulum membrane|integral to membrane		p.E945K(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TTCAGTAGCAGAAGCGGCAGC	0.572000													6	45					0	0	0.003080	0	0
MAST3	23031	broad.mit.edu	37	19	18255868	18255868	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:18255868G>T	ENST00000262811.5	+	23	2781	c.2781G>T	c.(2779-2781)tcG>tcT	p.S927S	AC007192.6_ENST00000600364.1_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	927	Ser-rich.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.S949S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CTCTGTCCTCGAACCCGTCGT	0.667000													15	45					1.49906e-05	1.6735e-05	0.002450	1	0
LCAT	3931	broad.mit.edu	37	16	67976321	67976321	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:67976321G>C	ENST00000264005.5	-	5	722	c.693C>G	c.(691-693)atC>atG	p.I231M		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	231					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity	p.I231M(2)		cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		CCCCAAGAGAGATGAAGCCAT	0.582000													12	95					0	0	0.000978	0	0
MED12	9968	broad.mit.edu	37	X	70351937	70351937	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:70351937C>G	ENST00000333646.6	+	30	4333	c.4134C>G	c.(4132-4134)ctC>ctG	p.L1378L	MED12_ENST00000478889.1_Intron|MED12_ENST00000374102.1_Silent_p.L1378L|MED12_ENST00000374080.3_Silent_p.L1378L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1378					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.L1378L(4)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGAACTCCCTCTTGGAGAACA	0.512000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						17	39					0	0	0.010504	0	0
MAP3K13	9175	broad.mit.edu	37	3	185169074	185169074	+	Splice_Site	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:185169074G>A	ENST00000265026.3	+	7	1503		c.e7-1		MAP3K13_ENST00000446828.1_Splice_Site|MAP3K13_ENST00000443863.1_Splice_Site|MAP3K13_ENST00000535426.1_Splice_Site|MAP3K13_ENST00000424227.1_Splice_Site	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13						activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	p.?(4)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TTCACTTTTAGGCAGAGTAAA	0.383000													30	81					0	0	0.007291	0	0
GSDMC	56169	broad.mit.edu	37	8	130789733	130789733	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:130789733C>T	ENST00000276708.4	-	2	982	c.101G>A	c.(100-102)cGt>cAt	p.R34H		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	34						mitochondrion		p.R34H(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						AACAAACTGACGTAATTTGGT	0.403000													27	147					0	0	0.005443	0	0
PNPLA7	375775	broad.mit.edu	37	9	140441330	140441330	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr9:140441330G>A	ENST00000406427.1	-	4	561	c.225C>T	c.(223-225)ttC>ttT	p.F75F	PNPLA7_ENST00000277531.4_Silent_p.F50F	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	50					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	p.F50F(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CTCTCTTCCGGAACCGGTACT	0.612000													21	85					0	0	0.003954	0	0
PURB	5814	broad.mit.edu	37	7	44924761	44924761	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:44924761C>T	ENST00000395699.2	-	1	199	c.187G>A	c.(187-189)Gag>Aag	p.E63K		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	63					regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding	p.E63K(1)		large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						GCGCCCACCTCGGCGATCTTG	0.632000													5	36					0	0	0.001168	0	0
OR10X1	128367	broad.mit.edu	37	1	158549566	158549566	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:158549566A>T	ENST00000368150.1	-	1	123	c.124T>A	c.(124-126)Ttt>Att	p.F42I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F42I(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ACAAAAAGAAATGTCTGTACA	0.418000													21	133					0	0	0.008871	0	0
CSMD3	114788	broad.mit.edu	37	8	113246694	113246694	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:113246694C>A	ENST00000297405.5	-	68	10884	c.10640G>T	c.(10639-10641)aGc>aTc	p.S3547I	CSMD3_ENST00000343508.3_Missense_Mutation_p.S3507I|CSMD3_ENST00000352409.3_Missense_Mutation_p.S3477I|CSMD3_ENST00000455883.2_Missense_Mutation_p.S3378I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3547						integral to membrane|plasma membrane		p.S3547I(2)|p.S3507I(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGCTTCCTGGCTTTTATATAC	0.323000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	164					0.000566183	0.000609889	0.004990	1	0
ZNF668	79759	broad.mit.edu	37	16	31073109	31073109	+	Silent	SNP	C	C	T	rs144972780	byFrequency	TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:31073109C>T	ENST00000538906.1	-	3	1924	c.1140G>A	c.(1138-1140)acG>acA	p.T380T	ZNF668_ENST00000417110.2_Silent_p.F99F|ZNF668_ENST00000394983.2_Silent_p.T380T|ZNF668_ENST00000539836.3_Silent_p.T403T|ZNF668_ENST00000535577.1_Silent_p.T380T|ZNF668_ENST00000300849.4_Silent_p.T380T|ZNF668_ENST00000426488.2_Silent_p.T403T	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T380T(2)|p.T403T(2)		breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GGCTATGCTTCGTGAGGCTGG	0.672000													36	322					0	0	0.004289	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121680889	121680889	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:121680889C>G	ENST00000393386.2	+	21	6068	c.5657C>G	c.(5656-5658)cCc>cGc	p.P1886R	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.P1019R	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1886	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.P1886R(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AAAGGAAGACCCAGTGGACGT	0.512000													20	125					0	0	0.010504	0	0
FRMD8	83786	broad.mit.edu	37	11	65154527	65154527	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:65154527G>T	ENST00000317568.5	+	2	183	c.20G>T	c.(19-21)aGt>aTt	p.S7I	FRMD8_ENST00000531296.1_Missense_Mutation_p.S7I|FRMD8_ENST00000416776.2_Missense_Mutation_p.S7I|FRMD8_ENST00000355991.5_Missense_Mutation_p.S7I	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	7						cytoskeleton	binding	p.S7I(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						ACAGAAGGCAGTGCCGGGCAG	0.657000													94	192					1.25848e-56	1.63018e-56	0.003610	1	0
ZNF616	90317	broad.mit.edu	37	19	52619760	52619760	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:52619760G>T	ENST00000600228.1	-	4	918	c.657C>A	c.(655-657)ggC>ggA	p.G219G	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G219G(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GAAAGGCTTTGCCACACTCAT	0.393000													6	175					3.59834e-05	3.9737e-05	0.001168	1	0
SLC39A12	221074	broad.mit.edu	37	10	18292133	18292133	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr10:18292133C>G	ENST00000377369.2	+	12	2066	c.1793C>G	c.(1792-1794)tCt>tGt	p.S598C	SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12_ENST00000539911.1_Missense_Mutation_p.S464C|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S597C|SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S561C	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	598					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.S561C(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCTGGACTTTCTATGAAGACT	0.408000													20	182					0	0	0.010504	0	0
ASNS	440	broad.mit.edu	37	7	97486051	97486051	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:97486051G>A	ENST00000175506.4	-	9	1509	c.981C>T	c.(979-981)gtC>gtT	p.V327V	ASNS_ENST00000444334.1_Silent_p.V306V|ASNS_ENST00000437628.1_Silent_p.V244V|ASNS_ENST00000394308.3_Silent_p.V327V|ASNS_ENST00000394309.3_Silent_p.V327V|ASNS_ENST00000455086.1_Silent_p.V244V|ASNS_ENST00000422745.1_Silent_p.V306V	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	327	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	p.V327V(2)		ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGGAAAATATGACTTCATCCA	0.318000													18	158					0	0	0.007413	0	0
CCDC146	57639	broad.mit.edu	37	7	76889471	76889471	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:76889471G>C	ENST00000285871.4	+	8	1031	c.904G>C	c.(904-906)Gaa>Caa	p.E302Q	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Missense_Mutation_p.E48Q	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	302								p.E302Q(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AGCCTTACTTGAAATCAAAGA	0.348000													30	70					0	0	0.003271	0	0
C16orf45	89927	broad.mit.edu	37	16	15677017	15677017	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:15677017C>A	ENST00000300006.4	+	5	783	c.424C>A	c.(424-426)Caa>Aaa	p.Q142K	C16orf45_ENST00000565913.1_3'UTR|C16orf45_ENST00000566490.1_Intron|C16orf45_ENST00000561692.1_Missense_Mutation_p.Q94K|C16orf45_ENST00000452191.2_Missense_Mutation_p.Q125K	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	142								p.Q142K(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						TCACAGGGAGCAAGAAGAAGA	0.378000													44	224					3.05275e-18	3.80973e-18	0.003214	1	0
IGSF22	283284	broad.mit.edu	37	11	18735942	18735942	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:18735942C>T	ENST00000513874.1	-	13	1819	c.1680G>A	c.(1678-1680)caG>caA	p.Q560Q	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	560								p.Q560Q(4)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GCTTCACAATCTGCATGCCTG	0.597000													24	138					0	0	0.004656	0	0
MGAT3	4248	broad.mit.edu	37	22	39883979	39883979	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr22:39883979C>G	ENST00000341184.6	+	2	842	c.627C>G	c.(625-627)atC>atG	p.I209M		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	209					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	p.I209M(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GCCGCGTCATCAACGCCATCA	0.657000													4	21					0	0	0.009096	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222842	140222842	+	Missense_Mutation	SNP	C	C	T	rs146582216		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:140222842C>T	ENST00000531613.1	+	1	1936	c.1936C>T	c.(1936-1938)Cgt>Tgt	p.R646C	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R646C|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018911.2	NP_061734.1												p.R646C(4)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGCGCCACCGTCTGCTGGT	0.662000													18	213					0	0	0.006122	0	0
FRG1B	284802	broad.mit.edu	37	20	29625905	29625905	+	Missense_Mutation	SNP	T	T	C	rs137871677	by1000genomes	TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr20:29625905T>C	ENST00000278882.3	+	5	529	c.149T>C	c.(148-150)cTt>cCt	p.L50P	FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P|FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P														p.L50P(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGAAAATATCTTGGTATAAAT	0.333000													4	146					0	0	0.009096	0	0
TRIM7	81786	broad.mit.edu	37	5	180622504	180622504	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:180622504C>G	ENST00000393315.1	-	7	1271	c.574G>C	c.(574-576)Gag>Cag	p.E192Q	CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000393319.3_Missense_Mutation_p.E218Q|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000422067.2_Missense_Mutation_p.E192Q|TRIM7_ENST00000361809.3_Missense_Mutation_p.E192Q|TRIM7_ENST00000274773.7_Missense_Mutation_p.E400Q	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	400						cytoplasm|nucleus	zinc ion binding	p.E400Q(2)		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)		ACCTCCACCTCCCAGTGATGC	0.716000													12	37					0	0	0.003163	0	0
GDAP2	54834	broad.mit.edu	37	1	118420645	118420645	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:118420645C>T	ENST00000369443.4	-	13	1681	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	GDAP2_ENST00000369442.3_Missense_Mutation_p.E478K	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	478	CRAL-TRIO.							p.E478K(2)		kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		GCATCATATTCAAGGACAAAA	0.453000													12	110					0	0	0.004007	0	0
C2orf47	79568	broad.mit.edu	37	2	200824033	200824033	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:200824033G>C	ENST00000295079.2	+	3	815	c.493G>C	c.(493-495)Gat>Cat	p.D165H	C2orf47_ENST00000392290.1_Missense_Mutation_p.D165H|C2orf47_ENST00000469156.1_3'UTR	NM_024520.2	NP_078796.2	Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	165						mitochondrion		p.D165H(2)		cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						GTGTAAATTTGATCTGTTGGA	0.323000													18	136					0	0	0.008871	0	0
DKK2	27123	broad.mit.edu	37	4	107845160	107845160	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr4:107845160T>C	ENST00000285311.3	-	4	1436	c.731A>G	c.(730-732)gAt>gGt	p.D244G	DKK2_ENST00000513208.1_Missense_Mutation_p.D144G|DKK2_ENST00000510463.1_Missense_Mutation_p.D198G	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	244	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		p.D244G(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GTAGGTGGCATCTTTCCATAC	0.458000													31	253					0	0	0.002096	0	0
USP34	9736	broad.mit.edu	37	2	61538783	61538783	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:61538783G>C	ENST00000398571.2	-	27	3785	c.3709C>G	c.(3709-3711)Ctt>Gtt	p.L1237V		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1237					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.L1237V(2)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCAGCCCTAAGATCTGCTACC	0.353000													8	91					0	0	0.004482	0	0
NLRP13	126204	broad.mit.edu	37	19	56423835	56423835	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:56423835G>C	ENST00000588751.1	-	5	1372	c.1348C>G	c.(1348-1350)Cag>Gag	p.Q450E	NLRP13_ENST00000342929.3_Missense_Mutation_p.Q450E			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	450	NACHT.						ATP binding	p.Q450E(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GTGGTAGTCTGAGTGATTGAC	0.502000													18	121					0	0	0.010504	0	0
GARS	2617	broad.mit.edu	37	7	30661020	30661020	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:30661020G>A	ENST00000389266.3	+	11	1612	c.1371G>A	c.(1369-1371)gaG>gaA	p.E457E		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	457					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	p.E457E(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GTTGGATTGAGATTGTTGGAT	0.368000													48	229					0	0	0.003214	0	0
POLK	51426	broad.mit.edu	37	5	74880722	74880722	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:74880722C>T	ENST00000241436.4	+	9	1369	c.1197C>T	c.(1195-1197)tcC>tcT	p.S399S	POLK_ENST00000515295.1_Silent_p.S399S|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000352007.5_Intron|POLK_ENST00000504026.1_Silent_p.S399S|POLK_ENST00000508526.1_Intron|POLK_ENST00000380481.3_Silent_p.S309S	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	399					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	p.S399S(4)		endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TTCATATCTCCTTGGGTCTAG	0.388000								DNA polymerases (catalytic subunits)					8	208					0	0	0.006214	0	0
TRRAP	8295	broad.mit.edu	37	7	98497313	98497313	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:98497313G>A	ENST00000359863.4	+	10	932	c.723G>A	c.(721-723)ctG>ctA	p.L241L	TRRAP_ENST00000355540.3_Silent_p.L241L|TRRAP_ENST00000446306.3_Silent_p.L241L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	241					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.L241L(4)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCTACAAACTGAACATCCACA	0.443000													51	116					0	0	0.003610	0	0
UBAP2	55833	broad.mit.edu	37	9	33963754	33963754	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr9:33963754G>C	ENST00000379238.1	-	9	832	c.715C>G	c.(715-717)Ctg>Gtg	p.L239V	UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000360802.1_Missense_Mutation_p.L239V|UBAP2_ENST00000449054.1_Missense_Mutation_p.L239V|UBAP2_ENST00000418786.2_Missense_Mutation_p.L186V|UBAP2_ENST00000379239.4_De_novo_Start_InFrame			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	239								p.L239V(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TTGTTTGACAGATCCTGAGCT	0.284000													12	86					0	0	0.004007	0	0
FMN2	56776	broad.mit.edu	37	1	240497523	240497523	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:240497523T>G	ENST00000319653.9	+	13	4989	c.4759T>G	c.(4759-4761)Ttg>Gtg	p.L1587V	FMN2_ENST00000545751.1_Missense_Mutation_p.L183V	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1587	FH2.				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	p.L1730V(2)		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)			GAAGAAAGACTTGAAAGGTAA	0.353000													19	305					0	0	0.010504	0	0
MTHFD1	4522	broad.mit.edu	37	14	64882110	64882110	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr14:64882110C>T	ENST00000555709.1	+	5	662	c.275C>T	c.(274-276)tCt>tTt	p.S92F	MTHFD1_ENST00000545908.1_Missense_Mutation_p.S148F|MTHFD1_ENST00000216605.7_Missense_Mutation_p.S148F|MTHFD1_ENST00000555252.1_Missense_Mutation_p.S72F	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	92	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	AATGAAGACTCTACTGTACAT	0.353000													5	203					0	0	0.001168	0	0
GSDMD	79792	broad.mit.edu	37	8	144642079	144642079	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:144642079C>T	ENST00000526406.1	+	6	1233	c.350C>T	c.(349-351)tCa>tTa	p.S117L	GSDMD_ENST00000262580.4_Missense_Mutation_p.S117L|GSDMD_ENST00000533063.1_Missense_Mutation_p.S165L	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	117								p.S117L(1)		breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						TCCAGCACCTCAATGAATGTG	0.637000													12	48					0	0	0.001855	0	0
LGALS9	3965	broad.mit.edu	37	17	25967714	25967714	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:25967714G>T	ENST00000395473.2	+	3	1716	c.248G>T	c.(247-249)gGg>gTg	p.G83V	AC015688.3_ENST00000584605.1_3'UTR|LGALS9_ENST00000302228.5_Missense_Mutation_p.G83V|LGALS9_ENST00000413914.2_Missense_Mutation_p.G26V|LGALS9_ENST00000313648.6_Missense_Mutation_p.G83V|LGALS9_ENST00000310394.5_Missense_Mutation_p.G83V|LGALS9_ENST00000448970.2_3'UTR	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	83	Beta-galactoside binding 1.|Galectin 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	p.G83V(2)		endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GGAAGCTGGGGGCCCGAGGAG	0.547000													57	255					7.73544e-29	9.89492e-29	0.003610	1	0
IWS1	55677	broad.mit.edu	37	2	128263325	128263325	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:128263325C>A	ENST00000295321.4	-	3	413	c.154G>T	c.(154-156)Gaa>Taa	p.E52*	IWS1_ENST00000486662.1_5'UTR|AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Nonsense_Mutation_p.E59*	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	52					transcription, DNA-dependent	nucleus	DNA binding	p.E52*(2)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TCACTAGTTTCATTCTGAAAA	0.308000													20	210					1.00905e-13	1.22442e-13	0.008871	1	0
ACTN2	88	broad.mit.edu	37	1	236908017	236908017	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:236908017C>G	ENST00000366578.4	+	12	1513	c.1347C>G	c.(1345-1347)agC>agG	p.S449R	ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.S449R|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	449					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	p.S449R(2)		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)			CGTTCGAGAGCGACCTGGCAG	0.642000													17	73					0	0	0.004990	0	0
MCTP1	79772	broad.mit.edu	37	5	94248517	94248517	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:94248517C>G	ENST00000515393.1	-	9	1514	c.1515G>C	c.(1513-1515)aaG>aaC	p.K505N	MCTP1_ENST00000505208.1_Missense_Mutation_p.K284N|MCTP1_ENST00000429576.2_Missense_Mutation_p.K238N|MCTP1_ENST00000505078.1_Missense_Mutation_p.K21N|MCTP1_ENST00000312216.8_Missense_Mutation_p.K284N	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	505	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.K505N(2)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTACCTTGCTCTTGTACTTCT	0.458000													25	100					0	0	0.005443	0	0
LTBP4	8425	broad.mit.edu	37	19	41105459	41105459	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:41105459T>G	ENST00000308370.7	+	3	338	c.338T>G	c.(337-339)cTg>cGg	p.L113R	LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.L76R|LTBP4_ENST00000545697.1_5'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	113					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	p.L113R(2)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGCAGCCACTGACGTGAGTG	0.637000													49	377					0	0	0.003610	0	0
DNAH8	1769	broad.mit.edu	37	6	38790666	38790666	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:38790666G>T	ENST00000359357.3	+	25	3179	c.2925G>T	c.(2923-2925)ggG>ggT	p.G975G	DNAH8_ENST00000441566.1_Silent_p.G975G|DNAH8_ENST00000449981.2_Silent_p.G1192G					dynein, axonemal, heavy chain 8									p.G975G(4)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTACCCGGGGGTAGCGGAGC	0.413000													10	58					0.00621372	0.00660073	0.006214	1	0
CCDC60	160777	broad.mit.edu	37	12	119916949	119916949	+	Missense_Mutation	SNP	G	G	A	rs144234053		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:119916949G>A	ENST00000327554.2	+	4	857	c.392G>A	c.(391-393)cGc>cAc	p.R131H	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	131								p.R131H(3)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GTCACACGTCGCCCATTCACT	0.473000													5	59					0	0	0.001984	0	0
AP4B1	10717	broad.mit.edu	37	1	114438396	114438396	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:114438396G>T	ENST00000369569.1	-	9	2055	c.1775C>A	c.(1774-1776)tCa>tAa	p.S592*	AP4B1_ENST00000256658.4_Nonsense_Mutation_p.S592*|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000369567.1_Nonsense_Mutation_p.S424*	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	592					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	p.S592*(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCAAAGGATGAAGTTTTAGG	0.443000													19	88					6.33239e-15	7.8074e-15	0.010504	1	0
GPATCH1	55094	broad.mit.edu	37	19	33581687	33581687	+	Splice_Site	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:33581687A>G	ENST00000170564.2	+	3	524	c.208_splice	c.e3-1	p.G70_splice		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	70						catalytic step 2 spliceosome	nucleic acid binding	p.G70G(2)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TTTTTTCAGGATGGACACCCT	0.373000													9	153					0	0	0.008291	0	0
MOCS3	27304	broad.mit.edu	37	20	49575979	49575979	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr20:49575979C>T	ENST00000244051.1	+	1	617	c.600C>T	c.(598-600)ctC>ctT	p.L200L		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	200					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	p.L200L(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						GTCGGCCCCTCGTGTCTGCCA	0.602000													19	79					0	0	0.006122	0	0
EML2	24139	broad.mit.edu	37	19	46116895	46116895	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:46116895G>C	ENST00000536630.1	-	21	2307	c.2169C>G	c.(2167-2169)atC>atG	p.I723M	EML2_ENST00000589876.1_Missense_Mutation_p.I576M|EML2_ENST00000245925.3_Missense_Mutation_p.I576M|EML2_ENST00000587152.1_Missense_Mutation_p.I777M	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	576					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	p.I576M(2)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CCACAGCGTTGATATCAGTGC	0.567000													11	183					0	0	0.003163	0	0
PTBP3	9991	broad.mit.edu	37	9	115024748	115024748	+	Silent	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr9:115024748G>C	ENST00000334318.6	-	6	762	c.576C>G	c.(574-576)ctC>ctG	p.L192L	PTBP3_ENST00000374255.2_Silent_p.L189L|PTBP3_ENST00000374257.1_Silent_p.L161L|PTBP3_ENST00000458258.1_Silent_p.L195L|PTBP3_ENST00000343327.2_Silent_p.L94L|PTBP3_ENST00000487997.1_5'UTR	NM_001163790.2|NM_005156.6	NP_001157262.1|NP_005147.3	O95758	ROD1_HUMAN	polypyrimidine tract binding protein 3	189	RRM 2.				anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding	p.L189L(2)									CAGGGTAAAAGAGGTTTTCAA	0.433000													36	119					0	0	0.003755	0	0
PREPL	9581	broad.mit.edu	37	2	44569580	44569580	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:44569580C>T	ENST00000541738.1	-	5	847	c.461G>A	c.(460-462)cGc>cAc	p.R154H	PREPL_ENST00000410081.1_Missense_Mutation_p.R243H|PREPL_ENST00000409936.1_Missense_Mutation_p.R243H|PREPL_ENST00000409957.1_Missense_Mutation_p.R154H|PREPL_ENST00000409411.1_Missense_Mutation_p.R154H|PREPL_ENST00000409272.1_Missense_Mutation_p.R243H|PREPL_ENST00000378511.3_Missense_Mutation_p.R243H|PREPL_ENST00000378520.3_Missense_Mutation_p.R243H|PREPL_ENST00000260648.6_Missense_Mutation_p.R243H	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	243					proteolysis	cytosol	serine-type endopeptidase activity	p.R243H(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGTGTAAAAGCGTTCATTACG	0.378000													39	117					0	0	0.003214	0	0
GOLGA4	2803	broad.mit.edu	37	3	37396654	37396654	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:37396654G>T	ENST00000361924.2	+	22	7013	c.6639G>T	c.(6637-6639)ttG>ttT	p.L2213F	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.L2228F	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2213	GRIP.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	p.L2213_E2214>F*(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGAAAATTTTGGAAAGAGAAG	0.388000													20	106					1.28384e-07	1.45977e-07	0.001882	1	0
MACF1	23499	broad.mit.edu	37	1	39797800	39797800	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:39797800C>T	ENST00000564288.1	+	37	6317	c.5540C>T	c.(5539-5541)tCa>tTa	p.S1847L	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.S1852L|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.S1884L|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S287L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1852					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.S287L(2)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCCTCTGGTCATTCATGGGG	0.463000													34	151					0	0	0.002445	0	0
NAV3	89795	broad.mit.edu	37	12	78583831	78583831	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:78583831G>T	ENST00000397909.2	+	34	6296	c.6123G>T	c.(6121-6123)agG>agT	p.R2041S	NAV3_ENST00000228327.6_Missense_Mutation_p.R2019S|NAV3_ENST00000266692.7_Missense_Mutation_p.R1842S|NAV3_ENST00000536525.2_Missense_Mutation_p.R2019S|NAV3_ENST00000552300.1_3'UTR			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2041						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.R2019S(2)		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						TTACCCAAAGGTACTTTAACT	0.348000										HNSCC(70;0.22)			7	110					0.000442599	0.000478444	0.006214	1	0
PSD3	23362	broad.mit.edu	37	8	18430067	18430067	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:18430067G>A	ENST00000440756.2	-	14	2863	c.2761C>T	c.(2761-2763)Ctg>Ttg	p.L921L	PSD3_ENST00000428502.2_Silent_p.L248L|PSD3_ENST00000523619.1_Silent_p.L854L|PSD3_ENST00000327040.8_Silent_p.L919L|PSD3_ENST00000286485.8_Silent_p.L385L			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	920					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.L921L(2)|p.L385L(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GTGGCAGGCAGAAGTGGGCGG	0.408000													21	87					0	0	0.003954	0	0
KIF15	56992	broad.mit.edu	37	3	44894219	44894219	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:44894219G>A	ENST00000326047.4	+	35	4308	c.4159G>A	c.(4159-4161)Gaa>Aaa	p.E1387K	KIF15_ENST00000425755.1_Missense_Mutation_p.E1022K	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1387					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	p.E1387K(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GAAAAGAAGTGAATCTTGAGG	0.353000													7	78					0	0	0.001984	0	0
RUFY1	80230	broad.mit.edu	37	5	178996340	178996340	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:178996340G>A	ENST00000377001.2	+	5	742	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	RUFY1_ENST00000437570.2_Missense_Mutation_p.E140K|RUFY1_ENST00000393438.2_Missense_Mutation_p.E140K|RUFY1_ENST00000319449.4_Missense_Mutation_p.E248K			Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	248	RUN.				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	p.E140K(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGGAGGAAGAAGGGATGGT	0.478000										HNSCC(44;0.11)			17	273					0	0	0.006122	0	0
HCN1	348980	broad.mit.edu	37	5	45267266	45267266	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:45267266T>A	ENST00000303230.4	-	7	1765	c.1708A>T	c.(1708-1710)Aac>Tac	p.N570Y		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	570						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.N570Y(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGGACCTCGTTGAAATTGTCC	0.433000													9	198					0	0	0.006214	0	0
ERI3	79033	broad.mit.edu	37	1	44785335	44785335	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:44785335C>T	ENST00000372257.2	-	4	752	c.571G>A	c.(571-573)Gta>Ata	p.V191I	ERI3_ENST00000537474.1_Missense_Mutation_p.V14I|ERI3_ENST00000372259.5_Missense_Mutation_p.V76I|ERI3_ENST00000495828.1_5'UTR	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	191	Exonuclease.					intracellular	exonuclease activity|metal ion binding|nucleic acid binding	p.V191I(2)		endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGATGGACTACAGGCTGGACA	0.517000													18	215					0	0	0.007413	0	0
ZBBX	79740	broad.mit.edu	37	3	166958699	166958699	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:166958699C>T	ENST00000392766.2	-	21	2625	c.2285G>A	c.(2284-2286)gGa>gAa	p.G762E	ZBBX_ENST00000307529.5_Missense_Mutation_p.G801E|ZBBX_ENST00000392767.2_Missense_Mutation_p.G762E|ZBBX_ENST00000455345.2_Missense_Mutation_p.G801E|ZBBX_ENST00000392764.1_Missense_Mutation_p.G733E	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	762						intracellular	zinc ion binding	p.G801E(2)|p.G762E(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GGTATCTCTTCCAGAACAGCT	0.378000													19	79					0	0	0.006122	0	0
CHRNA4	1137	broad.mit.edu	37	20	61982028	61982028	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr20:61982028G>T	ENST00000370263.4	-	5	956	c.735C>A	c.(733-735)ttC>ttA	p.F245L	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	245					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.F245L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TGATGGTGTAGAAGAGCGGCA	0.592000													13	58					1.67942e-08	1.95296e-08	0.006122	1	0
ZFHX3	463	broad.mit.edu	37	16	72821294	72821294	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:72821294C>T	ENST00000268489.5	-	10	11553	c.10881G>A	c.(10879-10881)gcG>gcA	p.A3627A	ZFHX3_ENST00000397992.5_Silent_p.A2713A	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3627					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.A3627A(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AAGGGGGCTTCGCTGCCGAAG	0.637000													15	39					0	0	0.004990	0	0
GCAT	23464	broad.mit.edu	37	22	38211697	38211697	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr22:38211697T>C	ENST00000323205.6	+	7	983	c.920T>C	c.(919-921)cTg>cCg	p.L307P	GCAT_ENST00000248924.6_Missense_Mutation_p.L281P	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	281					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.L281P(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CCTGGGCCCCTGGTGTCCCTG	0.652000													23	190					0	0	0.002299	0	0
KLHL15	80311	broad.mit.edu	37	X	24006555	24006555	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:24006555C>G	ENST00000328046.8	-	4	1553	c.1298G>C	c.(1297-1299)gGa>gCa	p.G433A		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	433								p.G433A(2)		autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						TGAGGTGATTCCACCGGTGAT	0.453000													66	82					0	0	0.003610	0	0
JAKMIP2	9832	broad.mit.edu	37	5	146997641	146997641	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:146997641G>C	ENST00000265272.5	-	19	2646	c.2179C>G	c.(2179-2181)Cta>Gta	p.L727V	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.L706V|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.L685V	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	727						Golgi apparatus		p.L727V(2)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTGCTGTAGAGCATTGTAC	0.408000													21	136					0	0	0.002299	0	0
UQCRQ	27089	broad.mit.edu	37	5	132203218	132203218	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:132203218G>C	ENST00000378670.3	+	3	334	c.193G>C	c.(193-195)Gaa>Caa	p.E65Q	UQCRQ_ENST00000378667.1_Missense_Mutation_p.E65Q|UQCRQ_ENST00000378665.1_Missense_Mutation_p.E65Q|UQCRQ_ENST00000496429.1_3'UTR	NM_014402.4	NP_055217.2	O14949	QCR8_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa	65					respiratory electron transport chain	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity	p.E65Q(2)		lung(3)	3		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGGGGGACTGAAGAGTTCGA	0.388000													10	64					0	0	0.008291	0	0
RIF1	55183	broad.mit.edu	37	2	152295239	152295239	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:152295239G>A	ENST00000243326.4	+	13	2008	c.1525G>A	c.(1525-1527)Gtg>Atg	p.V509M	RIF1_ENST00000453091.2_Missense_Mutation_p.V509M|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000428287.2_Missense_Mutation_p.V509M|RIF1_ENST00000430328.2_Missense_Mutation_p.V509M|RIF1_ENST00000444746.2_Missense_Mutation_p.V509M			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	509					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	p.V509M(2)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AATTAGCTTGGTGAAGTCAGT	0.348000													18	63					0	0	0.007413	0	0
KIN	22944	broad.mit.edu	37	10	7820880	7820880	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr10:7820880T>A	ENST00000379562.3	-	5	526	c.479A>T	c.(478-480)aAg>aTg	p.K160M	KIN_ENST00000535925.1_Missense_Mutation_p.K160M|KIN_ENST00000543003.1_Missense_Mutation_p.K54M			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	160					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding	p.K160M(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AAGGTCCTGCTTTTTCTTTTT	0.453000													35	274					0	0	0.002836	0	0
FBXO41	150726	broad.mit.edu	37	2	73486384	73486384	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:73486384C>T	ENST00000521871.1	-	12	2905	c.2490G>A	c.(2488-2490)ggG>ggA	p.G830G	FBXO41_ENST00000295133.5_Silent_p.G891G|FBXO41_ENST00000520530.2_Silent_p.G830G			Q8TF61	FBX41_HUMAN	F-box protein 41	830						intracellular	protein binding|zinc ion binding	p.G454G(1)|p.G830G(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						AATCCGCAATCCCAATCTGGA	0.557000													14	113					0	0	0.002450	0	0
TMEM108	66000	broad.mit.edu	37	3	133099400	133099400	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:133099400G>A	ENST00000515826.1	+	3	968	c.845G>A	c.(844-846)aGa>aAa	p.R282K	TMEM108_ENST00000321871.6_Missense_Mutation_p.R282K|TMEM108_ENST00000393130.3_Missense_Mutation_p.R282K|TMEM108_ENST00000508711.1_Intron			Q6UXF1	TM108_HUMAN	transmembrane protein 108	282						integral to membrane		p.R282K(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCCTTCGCAGAGCAGCCCAG	0.647000													13	62					0	0	0.004990	0	0
KLKB1	3818	broad.mit.edu	37	4	187149394	187149394	+	Silent	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr4:187149394T>A	ENST00000264690.6	+	2	232	c.45T>A	c.(43-45)gcT>gcA	p.A15A	KLKB1_ENST00000513864.1_Silent_p.A15A	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	15					blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	p.A15A(4)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CCTTGTTTGCTACAGTTTCCT	0.353000													7	30					0	0	0.003080	0	0
MAP3K1	4214	broad.mit.edu	37	5	56183268	56183268	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:56183268C>G	ENST00000399503.3	+	18	4178	c.4178C>G	c.(4177-4179)gCc>gGc	p.A1393G		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1393	Protein kinase.				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	p.A1230G(2)|p.A1393G(2)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GGAGCTGCAGCCAGGTTGGCA	0.443000													11	158					0	0	0.001368	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137225	40137225	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:40137225C>A	ENST00000278198.2	-	2	2581	c.618G>T	c.(616-618)atG>atT	p.M206I	LRRC4C_ENST00000528697.1_Missense_Mutation_p.M206I|LRRC4C_ENST00000527150.1_Missense_Mutation_p.M206I|LRRC4C_ENST00000530763.1_Missense_Mutation_p.M206I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	206					regulation of axonogenesis	integral to membrane	protein binding	p.M206I(2)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAAGGTTGCACATGGCAAGGT	0.463000													19	141					8.10497e-08	9.3192e-08	0.010504	1	0
C12orf56	115749	broad.mit.edu	37	12	64678484	64678484	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:64678484C>G	ENST00000543942.2	-	8	1896	c.1270G>C	c.(1270-1272)Gaa>Caa	p.E424Q	RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000536975.1_5'UTR|C12orf56_ENST00000333722.5_Missense_Mutation_p.E264Q	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	427								p.E264Q(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		GACTCGGTTTCTGTTTCTCTG	0.373000													6	21					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179605502	179605502	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:179605502T>A	ENST00000589042.1	-	48	12682	c.12458A>T	c.(12457-12459)cAg>cTg	p.Q4153L	TTN_ENST00000359218.5_Missense_Mutation_p.Q3915L|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q3836L|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q3790L|TTN_ENST00000342175.6_Missense_Mutation_p.Q3982L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3836							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Q3915L(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTACAATCTGCAGCTGTAG	0.458000													50	207					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9068944	9068944	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:9068944C>G	ENST00000397910.4	-	3	18705	c.18502G>C	c.(18502-18504)Ggc>Cgc	p.G6168R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6170	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G6168R(4)|p.G1801R(2)		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						GTCAGTTGGCCAAGAGATGTC	0.488000													23	76					0	0	0.002299	0	0
DFNA5	1687	broad.mit.edu	37	7	24756942	24756942	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:24756942C>A	ENST00000545231.1	-	7	1286	c.136G>T	c.(136-138)Gag>Tag	p.E46*	DFNA5_ENST00000342947.3_Nonsense_Mutation_p.E210*|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000419307.1_Nonsense_Mutation_p.E46*|DFNA5_ENST00000409970.1_Nonsense_Mutation_p.E46*|DFNA5_ENST00000409775.3_Nonsense_Mutation_p.E210*			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	210					sensory perception of sound			p.E210*(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GCTGGGATCTCCAGCACCACG	0.587000													17	91					0.00400662	0.00427095	0.004007	1	0
OR7A5	26659	broad.mit.edu	37	19	14938176	14938176	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:14938176C>A	ENST00000322301.3	-	2	965	c.878G>T	c.(877-879)aGg>aTg	p.R293M	OR7A5_ENST00000594432.1_Missense_Mutation_p.R293M|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293M(2)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GTCTTTATTCCTCAGACTATA	0.468000													25	89					5.61819e-17	6.95477e-17	0.005443	1	0
FAM211B	388886	broad.mit.edu	37	22	24985872	24985872	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr22:24985872C>G	ENST00000318753.8	-	2	246	c.223G>C	c.(223-225)Gat>Cat	p.D75H	GGT1_ENST00000248923.4_Intron|FAM211B_ENST00000495297.1_5'UTR	NM_207644.2	NP_997527.2	Q2VPJ9	LRC6X_HUMAN	family with sequence similarity 211, member B	75								p.D75H(1)									AAGGCCACATCTCTGTAGAGG	0.607000													9	48					0	0	0.008291	0	0
SMAD4	4089	broad.mit.edu	37	18	48573361	48573361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr18:48573361C>T	ENST00000590722.2	+	3	333	c.229C>T	c.(229-231)Caa>Taa	p.Q77*	SMAD4_ENST00000342988.3_5'UTR|SMAD4_ENST00000398417.2_5'UTR|SMAD4_ENST00000452201.2_5'UTR|RP11-729L2.2_ENST00000588256.1_3'UTR																							TCCAAAGGATCAAAATTGCTT	0.308000													17	34					0	0	0.004007	0	0
ABCA13	154664	broad.mit.edu	37	7	48563896	48563896	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:48563896G>A	ENST00000435803.1	+	54	14128	c.14104G>A	c.(14104-14106)Gaa>Aaa	p.E4702K	ABCA13_ENST00000544596.1_Missense_Mutation_p.E432K	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4702					transport	integral to membrane	ATP binding|ATPase activity	p.E4647K(2)|p.E4702K(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TACAGATGTTGAAAAAGAGGA	0.383000													6	27					0	0	0.004482	0	0
TTC8	123016	broad.mit.edu	37	14	89338775	89338775	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr14:89338775G>A	ENST00000338104.6	+	13	1426	c.1374G>A	c.(1372-1374)atG>atA	p.M458I	TTC8_ENST00000345383.5_Missense_Mutation_p.M432I|TTC8_ENST00000354441.6_Missense_Mutation_p.M177I|TTC8_ENST00000380656.2_Missense_Mutation_p.M442I|TTC8_ENST00000536576.1_Missense_Mutation_p.M203I|TTC8_ENST00000358622.5_Missense_Mutation_p.M244I|TTC8_ENST00000346301.4_Missense_Mutation_p.M402I			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	468					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	p.M442I(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGCTGGAGATGCGGAAGGGCC	0.532000													35	137					0	0	0.005524	0	0
OR2M4	26245	broad.mit.edu	37	1	248403046	248403046	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:248403046G>C	ENST00000306687.1	+	1	816	c.816G>C	c.(814-816)aaG>aaC	p.K272N		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K272N(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACCAGGACAAGATGGTGTCGG	0.502000													13	117					0	0	0.001855	0	0
PCLO	27445	broad.mit.edu	37	7	82763878	82763878	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:82763878C>T	ENST00000423517.2	-	3	3325	c.2988G>A	c.(2986-2988)gtG>gtA	p.V996V	PCLO_ENST00000333891.8_Silent_p.V996V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	942					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.V996V(4)|p.V942V(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTCCTTTTTCACAGGTATAC	0.468000													21	52					0	0	0.001882	0	0
OPLAH	26873	broad.mit.edu	37	8	145106271	145106271	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:145106271G>A	ENST00000426825.1	-	28	3904	c.3823C>T	c.(3823-3825)Cac>Tac	p.H1275Y	CTD-3065J16.6_ENST00000528912.1_RNA|OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1275							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	p.H1274Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	ACGCTGCCGTGCTCGGGAAAG	0.682000													6	20					0	0	0.001984	0	0
PPP6R3	55291	broad.mit.edu	37	11	68377414	68377414	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:68377414A>C	ENST00000393799.2	+	24	2778	c.2511A>C	c.(2509-2511)aaA>aaC	p.K837N	PPP6R3_ENST00000393800.2_Missense_Mutation_p.K831N|PPP6R3_ENST00000534534.1_Missense_Mutation_p.K599N|PPP6R3_ENST00000529710.1_Missense_Mutation_p.K751N|PPP6R3_ENST00000393801.3_Missense_Mutation_p.K837N|PPP6R3_ENST00000265636.5_Missense_Mutation_p.K751N|PPP6R3_ENST00000524904.1_Missense_Mutation_p.K825N|PPP6R3_ENST00000265637.4_Missense_Mutation_p.K785N|PPP6R3_ENST00000527403.2_Missense_Mutation_p.K796N|PPP6R3_ENST00000524845.1_Missense_Mutation_p.K802N			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	831					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	p.K837N(2)|p.K751N(2)		breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTGCTTGTAAAGACGCAGAGG	0.592000													60	140					0	0	0.003610	0	0
DNAJC13	23317	broad.mit.edu	37	3	132196902	132196902	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:132196902C>A	ENST00000260818.6	+	24	2875	c.2627C>A	c.(2626-2628)gCc>gAc	p.A876D		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	876							heat shock protein binding	p.A259D(1)|p.A876D(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TGTTTACAAGCCCTTGCTATT	0.333000													10	112					0.000673444	0.000720374	0.008291	1	0
ZFPM2	23414	broad.mit.edu	37	8	106813279	106813279	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:106813279G>A	ENST00000407775.2	+	8	1219	c.969G>A	c.(967-969)gtG>gtA	p.V323V	RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.V54V|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.V191V|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.V191V|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	323					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.V323V(2)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTCTAGGAGTGAAAATGGAAG	0.418000													50	196					0	0	0.003610	0	0
TRA2A	29896	broad.mit.edu	37	7	23571409	23571409	+	Splice_Site	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:23571409C>G	ENST00000297071.4	-	1	251	c.36_splice	c.e1+1	p.R12_splice	TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	12					nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding	p.R12T(2)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TGTACTCACTCTGCCCTCGAA	0.612000													12	99					0	0	0.003163	0	0
BAGE2	85319	broad.mit.edu	37	21	11047567	11047567	+	RNA	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr21:11047567C>T	ENST00000470054.1	-	0	687									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTATCACACACTAGCATCTTG	0.338000													17	680					0	0	0.007413	0	0
CYFIP2	26999	broad.mit.edu	37	5	156755057	156755057	+	Splice_Site	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:156755057G>T	ENST00000347377.6	+	19	2587	c.2156_splice	c.e19+1	p.S719_splice	CYFIP2_ENST00000442283.2_Splice_Site_p.S4_splice|CYFIP2_ENST00000435847.2_Splice_Site_p.S418_splice|CYFIP2_ENST00000377576.3_Splice_Site_p.S719_splice|CYFIP2_ENST00000318218.6_Splice_Site_p.S744_splice|CYFIP2_ENST00000541131.1_Splice_Site_p.S644_splice|CYFIP2_ENST00000522463.1_Splice_Site_p.S523_splice|CYFIP2_ENST00000521420.1_Splice_Site_p.S693_splice	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	744					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	p.S744I(4)|p.S719I(2)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGGCTGGCAGGTAGGAAAGC	0.468000													13	83					7.93312e-07	8.88857e-07	0.002450	1	0
DNAJC1	64215	broad.mit.edu	37	10	22048380	22048380	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr10:22048380C>T	ENST00000376980.3	-	11	1605	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N		NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	439					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	p.D439N(2)		cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				GGCCGGGCATCAGTGGCCCCG	0.662000													6	47					0	0	0.001984	0	0
SLC26A3	1811	broad.mit.edu	37	7	107416977	107416977	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:107416977C>T	ENST00000340010.5	-	15	1781	c.1597G>A	c.(1597-1599)Gaa>Aaa	p.E533K	SLC26A3_ENST00000422236.2_Missense_Mutation_p.E498K	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	533	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.E533K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTCACTCCTTCTGGCTCATAC	0.378000													11	124					0	0	0.000978	0	0
ULBP3	79465	broad.mit.edu	37	6	150385794	150385794	+	Silent	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:150385794G>C	ENST00000367339.1	-	4	712	c.684C>G	c.(682-684)ctC>ctG	p.L228L	ULBP3_ENST00000438272.2_Silent_p.L228L			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	228					antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity	p.L228L(2)		central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		TCCAGGGACTGAGGGTGGTGG	0.527000													15	126					0	0	0.004990	0	0
CCDC88A	55704	broad.mit.edu	37	2	55546020	55546020	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:55546020C>T	ENST00000436346.1	-	19	4124	c.3283G>A	c.(3283-3285)Gaa>Aaa	p.E1095K	CCDC88A_ENST00000413716.2_Missense_Mutation_p.E1094K|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E1094K|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E1095K|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1095					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	p.E1094K(2)|p.E1095K(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTATTCTGTTCTTGTAATGAC	0.368000													31	171					0	0	0.002445	0	0
C11orf70	85016	broad.mit.edu	37	11	101953881	101953881	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:101953881G>A	ENST00000434758.2	+	7	783	c.755G>A	c.(754-756)cGt>cAt	p.R252H		NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	252								p.R214H(2)		breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		CCTATCAGGCGTCACCTTCAT	0.343000													60	174					0	0	0.003610	0	0
UVRAG	7405	broad.mit.edu	37	11	75852254	75852254	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:75852254G>A	ENST00000356136.3	+	15	2138	c.1897G>A	c.(1897-1899)Gaa>Aaa	p.E633K	UVRAG_ENST00000531818.1_Missense_Mutation_p.E261K|UVRAG_ENST00000533454.1_Missense_Mutation_p.E261K|UVRAG_ENST00000532130.1_Missense_Mutation_p.E261K|UVRAG_ENST00000528420.1_Missense_Mutation_p.E532K|UVRAG_ENST00000539288.1_Missense_Mutation_p.E261K|UVRAG_ENST00000538870.1_Missense_Mutation_p.E189K	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	633					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	p.E633K(2)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GGAGCAAGCAGAAGAAATCAT	0.567000													7	105					0	0	0.001984	0	0
MYLK2	85366	broad.mit.edu	37	20	30418929	30418929	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr20:30418929T>C	ENST00000375994.2	+	9	1682	c.1409T>C	c.(1408-1410)gTg>gCg	p.V470A	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.V470A			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	470	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	p.V470A(2)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGTATGGGGGTGATCACCTAC	0.567000													39	144					0	0	0.002522	0	0
TRBC2	28638	broad.mit.edu	37	7	142498916	142498916	+	RNA	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:142498916G>A	ENST00000466254.1	+	0	192																											GCCCCTCAAGGAGCAGCCCGC	0.642000													38	174					0	0	0.006230	0	0
KNDC1	85442	broad.mit.edu	37	10	135032354	135032354	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr10:135032354C>G	ENST00000304613.3	+	27	4718	c.4697C>G	c.(4696-4698)tCc>tGc	p.S1566C	KNDC1_ENST00000368572.2_Missense_Mutation_p.S1568C			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1566	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			p.S1566C(2)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AACTTGCTGTCCAAATTTTTG	0.463000													94	277					0	0	0.003610	0	0
AKT2	208	broad.mit.edu	37	19	40745964	40745964	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:40745964G>A	ENST00000392038.2	-	7	925	c.627C>T	c.(625-627)caC>caT	p.H209H	AKT2_ENST00000579047.1_Silent_p.H147H|AKT2_ENST00000311278.6_Silent_p.H209H|AKT2_ENST00000424901.1_Silent_p.H209H	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	209	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.H209H(1)		breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TGAGGAACGGGTGCCTGGTGT	0.597000			A		"""ovarian, pancreatic """								33	946					0	0	0.009535	0	0
ATP11C	286410	broad.mit.edu	37	X	138832284	138832284	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:138832284T>A	ENST00000370557.1	-	24	3746	c.2719A>T	c.(2719-2721)Atg>Ttg	p.M907L	ATP11C_ENST00000361648.2_Missense_Mutation_p.M913L|ATP11C_ENST00000327569.3_Missense_Mutation_p.M913L|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Missense_Mutation_p.M913L|ATP11C_ENST00000359686.2_Missense_Mutation_p.M913L			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	913					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.M913L(4)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ATATTGTACATTGTAAGGTAA	0.383000													24	49					0	0	0.002299	0	0
PEX14	5195	broad.mit.edu	37	1	10555367	10555367	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:10555367C>G	ENST00000356607.4	+	2	153	c.73C>G	c.(73-75)Cga>Gga	p.R25G	PEX14_ENST00000538836.1_5'UTR	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	25					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity	p.R25G(2)		breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		TGTGCTGCCTCGAGAGCCGCT	0.433000											OREG0013090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	54					0	0	0.003080	0	0
EXOC1	55763	broad.mit.edu	37	4	56737273	56737273	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr4:56737273A>G	ENST00000381295.2	+	7	1186	c.838A>G	c.(838-840)Atg>Gtg	p.M280V	EXOC1_ENST00000346134.7_Missense_Mutation_p.M280V|EXOC1_ENST00000349598.6_Missense_Mutation_p.M280V	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	280					exocytosis|protein transport	exocyst	protein binding	p.M280V(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					CTAGAACCACATGGACTTGGC	0.433000													6	107					0	0	0.001168	0	0
LYN	4067	broad.mit.edu	37	8	56866476	56866476	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:56866476G>C	ENST00000520220.2	+	8	934	c.660G>C	c.(658-660)gaG>gaC	p.E220D	LYN_ENST00000519728.1_Missense_Mutation_p.E241D	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	241	SH2.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	p.E241D(2)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			ATGCCTGGGAGATCCCCCGGG	0.527000													14	136					0	0	0.002450	0	0
TAAR9	134860	broad.mit.edu	37	6	132859813	132859813	+	RNA	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:132859813G>T	ENST00000434551.1	+	0	385					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TATCTCTGTTGATAGATACAT	0.383000													8	91					3.09899e-07	3.49775e-07	0.004482	1	0
KRTAP23-1	337963	broad.mit.edu	37	21	31720897	31720897	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr21:31720897A>C	ENST00000334160.4	-	1	27	c.28T>G	c.(28-30)Ttc>Gtc	p.F10V		NM_181624.1	NP_853655.1	A1A580	KR231_HUMAN	keratin associated protein 23-1	10						intermediate filament		p.F10V(2)		large_intestine(1)|lung(4)|prostate(1)	6						TGGGAGGAGAAGTTTCCACAG	0.537000													7	98					0	0	0.003080	0	0
ALG3	10195	broad.mit.edu	37	3	183960694	183960694	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:183960694C>T	ENST00000455059.1	-	8	1395	c.941G>A	c.(940-942)cGc>cAc	p.R314H	EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Missense_Mutation_p.R306H|ALG3_ENST00000418734.2_Missense_Mutation_p.R298H|ALG3_ENST00000397676.3_Missense_Mutation_p.R354H			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	354					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	p.R306H(1)|p.R354H(1)		kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGGAGGGAGCGGCTGAAGCA	0.572000													6	39					0	0	0.003080	0	0
BCAR1	9564	broad.mit.edu	37	16	75263784	75263784	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:75263784G>A	ENST00000546196.1	-	7	3803	c.2151C>T	c.(2149-2151)ttC>ttT	p.F717F	BCAR1_ENST00000393420.6_Silent_p.F764F|BCAR1_ENST00000535626.2_Silent_p.F598F|BCAR1_ENST00000162330.5_Silent_p.F746F|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000393422.2_Silent_p.F764F|BCAR1_ENST00000418647.3_Silent_p.F792F|BCAR1_ENST00000420641.3_Silent_p.F764F|BCAR1_ENST00000538440.2_Silent_p.F746F|BCAR1_ENST00000542031.2_Silent_p.F744F			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	746					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	p.F746F(2)|p.F764F(2)|p.F792F(2)		breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCTCCAGGTAGAAGAGCAGCA	0.672000													18	75					0	0	0.008871	0	0
POT1	25913	broad.mit.edu	37	7	124503575	124503575	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:124503575G>A	ENST00000357628.3	-	8	973	c.375C>T	c.(373-375)ttC>ttT	p.F125F	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	125					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.F125F(4)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CCTCAGTAGTGAAGTTAAAAT	0.443000													77	180					0	0	0.003610	0	0
KIF26B	55083	broad.mit.edu	37	1	245530604	245530604	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:245530604C>T	ENST00000407071.2	+	3	1374	c.934C>T	c.(934-936)Cac>Tac	p.H312Y	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	312					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.H312Y(4)|p.H112Y(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CATCCAGGCTCACCAGTACCT	0.592000													6	20					0	0	0.003080	0	0
DNAJC14	85406	broad.mit.edu	37	12	56217256	56217256	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:56217256C>G	ENST00000357606.3	-	4	1733	c.1444G>C	c.(1444-1446)Gag>Cag	p.E482Q	DNAJC14_ENST00000317287.5_Missense_Mutation_p.E482Q|RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.G111A|DNAJC14_ENST00000317269.3_Missense_Mutation_p.E482Q			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	482	J.				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	p.E482Q(2)		breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TTGAAGGCCTCCTCAGCCCGG	0.438000													20	111					0	0	0.010504	0	0
KLHL3	26249	broad.mit.edu	37	5	136963999	136963999	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:136963999G>T	ENST00000508657.1	-	13	2196	c.1482C>A	c.(1480-1482)tgC>tgA	p.C494*	KLHL3_ENST00000309755.4_Nonsense_Mutation_p.C526*|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000541417.1_3'UTR|KLHL3_ENST00000506491.1_Nonsense_Mutation_p.C444*	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	526						cytoplasm|cytoskeleton	actin binding|structural molecule activity	p.C526*(2)|p.C526C(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CGTTGCGCCGGCACATGTTCA	0.537000													61	253					1.08141e-31	1.38909e-31	0.003610	1	0
SLC35B2	347734	broad.mit.edu	37	6	44222521	44222521	+	Silent	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:44222521G>C	ENST00000393812.3	-	4	1364	c.1221C>G	c.(1219-1221)ctC>ctG	p.L407L	SLC35B2_ENST00000537814.1_Silent_p.L274L|SLC35B2_ENST00000538577.1_Silent_p.L314L|SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000495706.1_5'UTR	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	407					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	p.L407L(2)		breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CGTAGACTCTGAGCAGGAGGG	0.602000													21	142					0	0	0.001882	0	0
CACNG4	27092	broad.mit.edu	37	17	65027117	65027117	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:65027117G>T	ENST00000262138.3	+	4	983	c.981G>T	c.(979-981)gtG>gtT	p.V327V		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	327					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	p.V327V(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CGACCCCTGTGTGAGCCGCCT	0.572000													23	106					3.28513e-13	3.93959e-13	0.003954	1	0
NOP16	51491	broad.mit.edu	37	5	175812222	175812222	+	Splice_Site	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:175812222C>T	ENST00000389158.5	-	4	828	c.393_splice	c.e4+1	p.K131_splice	NOP16_ENST00000507413.1_Intron|NOP16_ENST00000509257.1_Silent_p.K131K|NOP16_ENST00000510123.1_Splice_Site_p.K131_splice			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	131						nucleolus		p.K106K(2)|p.K131K(2)		central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						AGCCGCTCACCTTATAGTCCT	0.562000													25	149					0	0	0.004656	0	0
FLCN	201163	broad.mit.edu	37	17	17122443	17122443	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:17122443C>A	ENST00000285071.4	-	9	1406	c.952G>T	c.(952-954)Gaa>Taa	p.E318*	RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	318					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	p.E318*(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TCCCGCCCTTCTGTACTCTCT	0.587000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				76	290					5.98988e-27	7.59873e-27	0.003610	1	0
PPP2R2A	5520	broad.mit.edu	37	8	26223870	26223870	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:26223870G>A	ENST00000380737.3	+	9	1341	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.E348K	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha									p.E338K(2)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TTCACTGTATGAAAATGACTG	0.308000													30	151					0	0	0.002836	0	0
GRK6	2870	broad.mit.edu	37	5	176867754	176867754	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:176867754C>T	ENST00000355472.5	+	14	1626	c.1458C>T	c.(1456-1458)gtC>gtT	p.V486V	GRK6_ENST00000528793.1_Silent_p.V486V|GRK6_ENST00000393576.3_Silent_p.V452V|GRK6_ENST00000355958.5_Silent_p.V486V|PRR7-AS1_ENST00000425316.3_RNA	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	486	AGC-kinase C-terminal.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.V486V(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCTACGGTCAAGGGCGTGG	0.582000													31	112					0	0	0.008361	0	0
OBSL1	23363	broad.mit.edu	37	2	220432056	220432056	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:220432056G>C	ENST00000404537.1	-	4	1832	c.1776C>G	c.(1774-1776)atC>atG	p.I592M	OBSL1_ENST00000373873.4_Missense_Mutation_p.I592M|OBSL1_ENST00000373876.1_Missense_Mutation_p.I592M|OBSL1_ENST00000265318.4_Missense_Mutation_p.I592M|OBSL1_ENST00000289656.3_Missense_Mutation_p.I179M|OBSL1_ENST00000603926.1_Missense_Mutation_p.I592M	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	592	Fibronectin type-III.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	p.I592M(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TGACTGTGCAGATGCGGAAGC	0.612000													4	27					0	0	0.009096	0	0
HYI	81888	broad.mit.edu	37	1	43917151	43917151	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:43917151G>A	ENST00000372425.4	-	7	885	c.690C>T	c.(688-690)ttC>ttT	p.F230F	HYI_ENST00000372434.1_Silent_p.F255F|SZT2_ENST00000562955.1_3'UTR|HYI_ENST00000372426.1_Silent_p.F182F|HYI_ENST00000372432.1_Silent_p.F230F|SZT2_ENST00000372442.1_3'UTR|HYI_ENST00000583037.1_Silent_p.F157F|HYI_ENST00000486909.1_Silent_p.F230F			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	230							hydroxypyruvate isomerase activity	p.F230F(2)|p.F157F(2)		large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACAGATAGGGGAAATTCAGCT	0.607000													38	128					0	0	0.004878	0	0
NRG3	10718	broad.mit.edu	37	10	83635863	83635863	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr10:83635863C>T	ENST00000404547.1	+	1	767	c.767C>T	c.(766-768)tCt>tTt	p.S256F	NRG3_ENST00000372141.2_Missense_Mutation_p.S256F			P56975	NRG3_HUMAN	neuregulin 3	256	Poly-Ser.|Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.S256F(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		tcttcttcctcttcttcctcc	0.512000													4	12					0	0	0.009096	0	0
N4BP1	9683	broad.mit.edu	37	16	48594762	48594762	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:48594762C>T	ENST00000262384.3	-	2	2028	c.1792G>A	c.(1792-1794)Gat>Aat	p.D598N	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	598					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		p.D598N(2)|p.D645N(2)		breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TTTAGAGTATCTCGAAACCTT	0.423000													23	236					0	0	0.002780	0	0
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	G	rs121912660		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:7577099C>G	ENST00000420246.2	-	8	971	c.839G>C	c.(838-840)aGa>aCa	p.R280T	TP53_ENST00000445888.2_Missense_Mutation_p.R280T|TP53_ENST00000455263.2_Missense_Mutation_p.R280T|TP53_ENST00000269305.4_Missense_Mutation_p.R280T|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R280T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (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.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GCGCCGGTCTCTCCCAGGACA	0.542000		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)			18	53					0	0	0.007413	0	0
MUT	4594	broad.mit.edu	37	6	49425625	49425625	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:49425625G>C	ENST00000274813.3	-	3	659	c.532C>G	c.(532-534)Cct>Gct	p.P178A		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	178					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	p.P178A(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTTCTAAAGGAATTCCATCA	0.383000													13	101					0	0	0.001855	0	0
DMPK	1760	broad.mit.edu	37	19	46283154	46283154	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:46283154C>A	ENST00000600757.1	-	1	851	c.164G>T	c.(163-165)cGg>cTg	p.R55L	AC011530.4_ENST00000593999.1_Intron|DMPK_ENST00000458663.2_Intron|DMPK_ENST00000447742.2_Intron|DMPK_ENST00000354227.5_Intron|DMPK_ENST00000291270.4_Intron|DMPK_ENST00000343373.4_Missense_Mutation_p.R55L			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	55					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.R55L(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GGAAAAGAACCGAGGGTCACC	0.602000													16	61					5.03518e-11	5.96834e-11	0.007413	1	0
FSIP2	401024	broad.mit.edu	37	2	186670938	186670938	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:186670938G>C	ENST00000343098.5	+	17	17172	c.17172G>C	c.(17170-17172)aaG>aaC	p.K5724N	FSIP2_ENST00000424728.1_Missense_Mutation_p.K5635N	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.K333N(4)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGAAGTCCAAGAGAAATCTAG	0.388000													7	78					0	0	0.001984	0	0
EXOG	9941	broad.mit.edu	37	3	38548401	38548401	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:38548401C>T	ENST00000287675.5	+	5	683	c.587C>T	c.(586-588)tCt>tTt	p.S196F	EXOG_ENST00000358249.2_Missense_Mutation_p.S56F|EXOG_ENST00000422077.2_Missense_Mutation_p.S146F	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	196						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	p.S196F(2)		central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TGGGTGGTATCTGGGCCTTTG	0.353000													17	77					0	0	0.001882	0	0
C1orf87	127795	broad.mit.edu	37	1	60505791	60505791	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:60505791C>G	ENST00000371201.3	-	5	652	c.545G>C	c.(544-546)aGa>aCa	p.R182T	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	182							calcium ion binding	p.R182T(2)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAGTTCTCTTCTGACCAGGGC	0.423000													40	183					0	0	0.005524	0	0
CSMD1	64478	broad.mit.edu	37	8	2876054	2876054	+	Silent	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:2876054A>G	ENST00000602557.1	-	53	8532	c.7977T>C	c.(7975-7977)caT>caC	p.H2659H	CSMD1_ENST00000520002.1_Silent_p.H2659H|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Silent_p.H2658H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2659	Sushi 17.					integral to membrane		p.H2387H(2)|p.H2658H(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTCTCTGACATGAGACCCCA	0.483000													40	263					0	0	0.007835	0	0
SLC22A8	9376	broad.mit.edu	37	11	62761244	62761244	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:62761244G>C	ENST00000336232.2	-	9	1458	c.1323C>G	c.(1321-1323)atC>atG	p.I441M	SLC22A8_ENST00000545207.1_Missense_Mutation_p.I350M|SLC22A8_ENST00000430500.2_Missense_Mutation_p.I441M|SLC22A8_ENST00000311438.8_Missense_Mutation_p.I441M|SLC22A8_ENST00000535878.1_Missense_Mutation_p.I318M	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	441					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	p.I441M(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GCACCTACCTGATGACTGTGG	0.562000													9	97					0	0	0.000978	0	0
DNAH10	196385	broad.mit.edu	37	12	124323233	124323233	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:124323233C>G	ENST00000409039.3	+	28	4804	c.4779C>G	c.(4777-4779)atC>atG	p.I1593M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1593	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I185M(2)|p.I1593M(2)		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)		AGCACATGATCAAGGTCAGCC	0.557000													44	159					0	0	0.009718	0	0
NUMB	8650	broad.mit.edu	37	14	73749182	73749182	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr14:73749182G>C	ENST00000556772.1	-	5	2836	c.549C>G	c.(547-549)atC>atG	p.I183M	NUMB_ENST00000359560.3_Missense_Mutation_p.I316M|NUMB_ENST00000356296.4_Missense_Mutation_p.I327M|NUMB_ENST00000355058.3_Missense_Mutation_p.I327M|NUMB_ENST00000555738.2_Missense_Mutation_p.I218M|NUMB_ENST00000554546.1_Missense_Mutation_p.I316M|NUMB_ENST00000560335.1_Missense_Mutation_p.I229M|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000557597.1_Missense_Mutation_p.I316M|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000535282.1_Missense_Mutation_p.I316M|NUMB_ENST00000454166.4_Missense_Mutation_p.I229M|NUMB_ENST00000555394.1_Missense_Mutation_p.I327M|NUMB_ENST00000555238.1_Missense_Mutation_p.I327M			P49757	NUMB_HUMAN	numb homolog (Drosophila)	327	PID.				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane		p.I327M(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		ACAGGGAGCTGATGCTCTCTG	0.498000													21	88					0	0	0.010504	0	0
GPR27	2850	broad.mit.edu	37	3	71804103	71804103	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:71804103C>T	ENST00000304411.2	+	1	903	c.903C>T	c.(901-903)gtC>gtT	p.V301V		NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	301						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V301V(1)		kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		GGCCCTACGTCGTGGCCAGCT	0.672000													9	47					0	0	0.000978	0	0
ADD3	120	broad.mit.edu	37	10	111878416	111878416	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr10:111878416C>T	ENST00000277900.8	+	6	1004	c.639C>T	c.(637-639)ttC>ttT	p.F213F	ADD3_ENST00000360162.3_Silent_p.F213F|ADD3_ENST00000356080.4_Silent_p.F213F	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	213						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	p.F213F(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ATACAGGATTCAGTCCCCATG	0.393000													20	64					0	0	0.010504	0	0
PDGFRB	5159	broad.mit.edu	37	5	149514487	149514487	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:149514487C>G	ENST00000261799.4	-	4	926	c.457G>C	c.(457-459)Gac>Cac	p.D153H		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	153	Ig-like C2-type 2.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	p.D153H(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGCTGTGGGTCTGTTACTCGG	0.522000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								42	208					0	0	0.003214	0	0
TRPM7	54822	broad.mit.edu	37	15	50891429	50891429	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr15:50891429C>A	ENST00000313478.7	-	22	3334	c.3053G>T	c.(3052-3054)aGa>aTa	p.R1018I	TRPM7_ENST00000560955.1_Missense_Mutation_p.R1018I	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1018					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	p.R1018I(2)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TATTGCCTTTCTGGGAACACC	0.353000													29	113					1.50538e-07	1.70536e-07	0.006320	1	0
BCHE	590	broad.mit.edu	37	3	165548362	165548362	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:165548362G>A	ENST00000264381.3	-	2	626	c.460C>T	c.(460-462)Cat>Tat	p.H154Y	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	154					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.H154Y(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TCATAAACATGTAAAGATGAT	0.383000													9	44					0	0	1	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19856916	19856916	+	RNA	SNP	T	T	C	rs56312412		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr14:19856916T>C	ENST00000548109.1	+	0	72																											AGTCTGTACATTCCAAACACT	0.393000													3	30					0	0	1	0	0
SAMD15	161394	broad.mit.edu	37	14	77845256	77845256	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr14:77845256G>C	ENST00000216471.4	+	1	1781	c.1495G>C	c.(1495-1497)Gag>Cag	p.E499Q	SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	499								p.E499Q(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGATCCCTCAGAGTCTCAGAC	0.408000													29	81					0	0	1	0	0
LGALS17A	400696	broad.mit.edu	37	19	40172135	40172135	+	RNA	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:40172135G>A	ENST00000412609.1	+	0	124																											CAGGGACACCGATCATCCCTT	0.532000													22	729					0	0	1	0	0
PLP1	5354	broad.mit.edu	37	X	103044264	103044264	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chrX:103044264C>T	ENST00000418604.1	+	7	979	c.699C>T	c.(697-699)ttC>ttT	p.F233F	PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000303958.2_Silent_p.F233F|PLP1_ENST00000361621.2_Silent_p.F198F	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	233					cell death|synaptic transmission	integral to membrane		p.F233F(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						TCCTGCAGTTCCAAATGACCT	0.413000													86	94					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48575671	48575671	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr18:48575671C>G	ENST00000342988.3	+	4	969	c.431C>G	c.(430-432)tCa>tGa	p.S144*	RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.S144*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.S144*|SMAD4_ENST00000452201.2_Nonsense_Mutation_p.S144*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	144					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.S144*(5)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TAAGATCTCTCAGGATTAACA	0.294000													13	33					0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60613585	60613585	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr17:60613585A>G	ENST00000326270.9	+	7	686	c.418A>G	c.(418-420)Acg>Gcg	p.T140A	TLK2_ENST00000343388.7_Missense_Mutation_p.T108A|TLK2_ENST00000542523.1_Missense_Mutation_p.T108A|TLK2_ENST00000346027.5_Missense_Mutation_p.T140A|TLK2_ENST00000582809.1_5'UTR			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	140					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.T140A(4)|p.T139A(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AAAGGAGGCAACGGAGGAGCA	0.512000													36	142					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72893294	72893294	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr12:72893294T>C	ENST00000261180.4	+	6	1562	c.1466T>C	c.(1465-1467)cTg>cCg	p.L489P		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	489					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.L489P(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CAGAGGTTTCTGACCGATGTT	0.448000													27	129					0	0	1	0	0
AGAP6	414189	broad.mit.edu	37	10	51748684	51748684	+	Missense_Mutation	SNP	G	G	A	rs61848260		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr10:51748684G>A	ENST00000374056.4	+	1	607	c.209G>A	c.(208-210)cGg>cAg	p.R70Q	AGAP6_ENST00000412531.3_Missense_Mutation_p.R70Q			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	70					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						GTTCGTGACCGGGAGATGCCT	0.592000													9	219					0	0	1	0	0
DNAJB11	51726	broad.mit.edu	37	3	186301672	186301672	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:186301672G>C	ENST00000439351.1	+	9	1688	c.759G>C	c.(757-759)agG>agC	p.R253S	DNAJB11_ENST00000265028.3_Missense_Mutation_p.R253S			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	253					protein folding	endoplasmic reticulum lumen	heat shock protein binding	p.R253S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TATTTGAAAGGAGAGGAGATG	0.338000													9	153					0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43912048	43912048	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr17:43912048C>A	ENST00000314537.5	+	13	1391	c.1166C>A	c.(1165-1167)gCc>gAc	p.A389D	CRHR1_ENST00000293493.7_Missense_Mutation_p.A214D|CRHR1_ENST00000352855.5_Missense_Mutation_p.A349D|CRHR1_ENST00000339069.5_Missense_Mutation_p.P243T|CRHR1_ENST00000577353.1_Missense_Mutation_p.A375D|CRHR1_ENST00000398285.3_Missense_Mutation_p.A418D	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	418					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	p.A389D(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TCGATCCGTGCCCGAGTGGCC	0.632000													3	32					0.00024832	0.000257305	1	1	0
NBPF14	25832	broad.mit.edu	37	1	148012533	148012533	+	Missense_Mutation	SNP	T	T	G	rs144977899		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:148012533T>G	ENST00000369219.1	-	12	1442	c.1426A>C	c.(1426-1428)Aag>Cag	p.K476Q				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	476	NBPF 5.					cytoplasm		p.E481D(1)|p.K476Q(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CCAACATGCTTTTCCTCCAAT	0.448000													4	19					0	0	1	0	0
PIGX	54965	broad.mit.edu	37	3	196460684	196460684	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:196460684C>G	ENST00000314118.4	+	6	847	c.565C>G	c.(565-567)Cta>Gta	p.L189V	PIGX_ENST00000541663.1_Missense_Mutation_p.L140V	NM_017861.3	NP_060331.3	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	230					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane		p.L189V(2)		endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		ACATACCTCTCTAGTATGTTC	0.378000													31	98					0	0	1	0	0
NR0B1	190	broad.mit.edu	37	X	30326416	30326416	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chrX:30326416G>A	ENST00000378970.4	-	1	1299	c.1065C>T	c.(1063-1065)gcC>gcT	p.A355A	NR0B1_ENST00000453287.1_Silent_p.A355A|NR0B1_ENST00000378963.1_Silent_p.A60A	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	355	Ligand-binding (By similarity).				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	p.A355A(1)		central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GGACCTGGGAGGCGGAGGGCA	0.632000											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	29					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57567684	57567684	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr12:57567684C>T	ENST00000243077.3	+	22	3934	c.3468C>T	c.(3466-3468)acC>acT	p.T1156T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1156	LDL-receptor class A 10.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.T1156T(2)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCAACAACACCTCAGTCTGCC	0.622000													22	77					0	0	1	0	0
PRKACA	5566	broad.mit.edu	37	19	14218166	14218166	+	Silent	SNP	G	G	A	rs56105247	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:14218166G>A	ENST00000308677.4	-	2	298	c.102C>T	c.(100-102)ccC>ccT	p.P34P	PRKACA_ENST00000590853.1_Silent_p.P34P|PRKACA_ENST00000589994.1_Silent_p.P26P|PRKACA_ENST00000350356.3_5'UTR	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	34					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding	p.P26P(1)|p.P34P(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						TTACCTGAGCGGGACTTTCCC	0.527000													4	58					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140870387	140870387	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr9:140870387C>G	ENST00000371372.1	+	12	1717	c.1572C>G	c.(1570-1572)ctC>ctG	p.L524L	CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Silent_p.L524L|CACNA1B_ENST00000371355.4_Silent_p.L525L|CACNA1B_ENST00000371363.1_Silent_p.L524L|CACNA1B_ENST00000371357.1_Silent_p.L525L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	524					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.L524L(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCCTGGGTCTCTTCCTCACAG	0.567000													5	20					0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17298312	17298312	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr9:17298312G>T	ENST00000380647.3	+	7	1192	c.1108G>T	c.(1108-1110)Gaa>Taa	p.E370*	CNTLN_ENST00000380641.4_Nonsense_Mutation_p.E370*|CNTLN_ENST00000425824.1_Nonsense_Mutation_p.E370*|CNTLN_ENST00000262360.5_Nonsense_Mutation_p.E370*			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	370						centriole|membrane	two-component sensor activity	p.E370*(2)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GAGAAATCAGGAAGATGTTCA	0.343000													20	34					2.39556e-15	2.65705e-15	1	1	0
SLCO5A1	81796	broad.mit.edu	37	8	70617351	70617351	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr8:70617351C>A	ENST00000260126.3	-	6	2243	c.1537G>T	c.(1537-1539)Gtg>Ttg	p.V513L	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.V458L|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.V513L	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	513						integral to membrane|plasma membrane	transporter activity	p.V513L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AGTAAAGACACACCACTGCAG	0.398000													16	181					1.3612e-06	1.43886e-06	1	1	0
CACNA1B	774	broad.mit.edu	37	9	140919511	140919511	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr9:140919511C>T	ENST00000277549.5	+	20	3318	c.749C>T	c.(748-750)gCa>gTa	p.A250V	CACNA1B_ENST00000371367.5_Missense_Mutation_p.A42V|CACNA1B_ENST00000371372.1_Missense_Mutation_p.A1058V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A1058V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A1059V|CACNA1B_ENST00000545473.1_Missense_Mutation_p.A42V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A1058V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A1059V			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1058					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.A1058V(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCAGAGGATGCAGACAATCAG	0.592000													9	43					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77760049	77760049	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr13:77760049C>G	ENST00000407578.2	-	31	4667	c.4401G>C	c.(4399-4401)ctG>ctC	p.L1467L	MYCBP2_ENST00000357337.6_Silent_p.L1429L|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Silent_p.L1429L	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.L1429L(4)|p.L1467L(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCAATAACCTCAGACAACAGG	0.383000													18	50					0	0	1	0	0
PDPR	55066	broad.mit.edu	37	16	70190452	70190452	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:70190452C>T	ENST00000288050.4	+	19	3267	c.2310C>T	c.(2308-2310)ttC>ttT	p.F770F	PDPR_ENST00000568530.1_Silent_p.F770F|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000398122.3_Silent_p.F670F|PDPR_ENST00000567046.1_Silent_p.F128F|PDPR_ENST00000542659.1_Silent_p.F115F	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	770					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	p.F770F(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TCACCATGTTCATCCTGGACG	0.532000													86	298					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617486	77617486	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr8:77617486C>G	ENST00000521891.2	+	2	1611	c.1163C>G	c.(1162-1164)aCc>aGc	p.T388S	ZFHX4_ENST00000455469.2_Missense_Mutation_p.T388S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T388S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T388S|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	388						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T388S(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCGCGAGCACCTCGAGCTCA	0.532000										HNSCC(33;0.089)			5	24					0	0	1	0	0
STAT2	6773	broad.mit.edu	37	12	56744927	56744927	+	Missense_Mutation	SNP	C	C	T	rs149666262		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr12:56744927C>T	ENST00000314128.4	-	10	1012	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	STAT2_ENST00000557235.1_Missense_Mutation_p.R326Q|STAT2_ENST00000418572.2_Missense_Mutation_p.R326Q			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	330					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.R330Q(3)		NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GATGAGGGGTCGATGGGGAGT	0.507000													39	123					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74042320	74042320	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:74042320G>C	ENST00000409561.1	+	3	1091	c.970G>C	c.(970-972)Gag>Cag	p.E324Q		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	324								p.E324Q(4)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCAGACACTTGAGAGTAACCC	0.463000													23	103					0	0	1	0	0
AMER2	219287	broad.mit.edu	37	13	25743889	25743889	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr13:25743889G>T	ENST00000357816.2	-	3	1987	c.1512C>A	c.(1510-1512)ccC>ccA	p.P504P	AMER2_ENST00000515384.1_Silent_p.P623P|AMER2_ENST00000381853.3_Silent_p.P504P					APC membrane recruitment protein 2									p.P623P(2)|p.P504P(2)									GGTGCACCACGGGATGGCTAG	0.562000													36	92					4.32679e-17	4.85032e-17	1	1	0
PAPSS1	9061	broad.mit.edu	37	4	108552995	108552995	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr4:108552995G>A	ENST00000265174.4	-	11	1800	c.1528C>T	c.(1528-1530)Cgg>Tgg	p.R510W		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	510					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	p.R510W(1)		NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		GCAACCATCCGTGCTCTGCAA	0.418000													5	68					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70352266	70352266	+	Silent	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chrX:70352266C>A	ENST00000333646.6	+	31	4492	c.4293C>A	c.(4291-4293)ctC>ctA	p.L1431L	MED12_ENST00000374080.3_Silent_p.L1431L|MED12_ENST00000374102.1_Silent_p.L1431L|MED12_ENST00000478889.1_Intron	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1431					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.L1431L(4)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGGCCCCCCTCATTGCTAAAC	0.557000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						29	44					2.08457e-15	2.32028e-15	1	1	0
PPP6R3	55291	broad.mit.edu	37	11	68377414	68377414	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:68377414A>C	ENST00000393799.2	+	24	2778	c.2511A>C	c.(2509-2511)aaA>aaC	p.K837N	PPP6R3_ENST00000393800.2_Missense_Mutation_p.K831N|PPP6R3_ENST00000265637.4_Missense_Mutation_p.K785N|PPP6R3_ENST00000527403.2_Missense_Mutation_p.K796N|PPP6R3_ENST00000524845.1_Missense_Mutation_p.K802N|PPP6R3_ENST00000534534.1_Missense_Mutation_p.K599N|PPP6R3_ENST00000524904.1_Missense_Mutation_p.K825N|PPP6R3_ENST00000393801.3_Missense_Mutation_p.K837N|PPP6R3_ENST00000529710.1_Missense_Mutation_p.K751N|PPP6R3_ENST00000265636.5_Missense_Mutation_p.K751N			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	831					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	p.K837N(2)|p.K751N(2)		breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTGCTTGTAAAGACGCAGAGG	0.592000													228	427					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	402317	402317	+	Missense_Mutation	SNP	C	C	T	rs12358220	by1000genomes	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr10:402317C>T	ENST00000540204.1	-	8	1220	c.997G>A	c.(997-999)Gcc>Acc	p.A333T	DIP2C_ENST00000280886.6_Intron|DIP2C_ENST00000381496.3_3'UTR			Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	0						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGGAACCAGGCTAGGCCCCTT	0.527000													6	20					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100061923	100061923	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:100061923A>G	ENST00000524871.1	+	14	1936	c.1646A>G	c.(1645-1647)tAc>tGc	p.Y549C	CNTN5_ENST00000527185.1_Missense_Mutation_p.Y549C|CNTN5_ENST00000279463.3_Missense_Mutation_p.Y549C|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.Y549C|CNTN5_ENST00000418526.2_Missense_Mutation_p.Y475C	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	549	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.Y549C(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GAGGGAAAGTACGTTTGCCGA	0.383000													7	95					0	0	1	0	0
LCAT	3931	broad.mit.edu	37	16	67976321	67976321	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:67976321G>C	ENST00000264005.5	-	5	722	c.693C>G	c.(691-693)atC>atG	p.I231M		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	231					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity	p.I231M(2)		cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		CCCCAAGAGAGATGAAGCCAT	0.582000													3	20					0	0	1	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090800	115090800	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr13:115090800G>A	ENST00000361283.1	+	3	1792	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	495	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	p.E495K(2)									TGTCTTCCCTGAGACCCGAAA	0.493000													42	137					0	0	1	0	0
SULT1B1	27284	broad.mit.edu	37	4	70596267	70596267	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr4:70596267G>A	ENST00000310613.2	-	7	1027	c.730C>T	c.(730-732)Cta>Tta	p.L244L		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	244					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		p.L244L(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GTAGTTGGTAGATGTGTATAA	0.358000													12	167					0	0	1	0	0
OR2W5	441932	broad.mit.edu	37	1	247655162	247655162	+	RNA	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:247655162C>A	ENST00000522351.1	+	0	793							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P245T(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCTCTTCTCACCTCACAGTGG	0.542000													53	194					7.92265e-33	9.20898e-33	1	1	0
BAX	581	broad.mit.edu	37	19	49459574	49459574	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:49459574G>T	ENST00000293288.8	+	4	353	c.353G>T	c.(352-354)aGc>aTc	p.S118I	BAX_ENST00000539787.1_Missense_Mutation_p.S118I|BAX_ENST00000354470.3_Missense_Mutation_p.S69I|BAX_ENST00000345358.7_Missense_Mutation_p.S118I|BAX_ENST00000415969.2_Missense_Mutation_p.S118I|BAX_ENST00000391871.3_3'UTR	NM_004324.3	NP_004315.1	Q07812	BAX_HUMAN	BCL2-associated X protein	118					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity	p.S118I(4)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		TACTTTGCCAGCAAACTGGTG	0.587000													4	13					0.00024832	0.000257305	1	1	0
MUC4	4585	broad.mit.edu	37	3	195505829	195505829	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:195505829G>A	ENST00000463781.3	-	2	13081	c.12622C>T	c.(12622-12624)Cct>Tct	p.P4208S	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P4208S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	970					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACAGGAAGAGGGGTGGCGTGA	0.597000													3	1					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51889442	51889442	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:51889442G>A	ENST00000371117.3	-	32	5441	c.5166C>T	c.(5164-5166)atC>atT	p.I1722I	PKHD1_ENST00000340994.4_Silent_p.I1722I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1722	IPT/TIG 12; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.I1722I(4)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCCACCCTCTGATGCAGTCAT	0.532000													30	270					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37396655	37396655	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:37396655G>T	ENST00000361924.2	+	22	7014	c.6640G>T	c.(6640-6642)Gaa>Taa	p.E2214*	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.E2229*	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2214	GRIP.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	p.L2213_E2214>F*(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAAAATTTTGGAAAGAGAAGA	0.383000													39	227					2.22293e-35	2.60306e-35	1	1	0
RPL22	6146	broad.mit.edu	37	1	6253091	6253091	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:6253091G>C	ENST00000234875.4	-	3	179	c.141C>G	c.(139-141)atC>atG	p.I47M	RPL22_ENST00000497965.1_Missense_Mutation_p.I14M|RPL22_ENST00000484532.1_Missense_Mutation_p.I14M	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	47					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome	p.I47M(2)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CGTTCACTTTGATCCTTTCTT	0.438000			T	RUNX1	"""AML, CML"""								8	55					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													4	36					0	0	1	0	0
ZNF597	146434	broad.mit.edu	37	16	3490921	3490921	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:3490921A>G	ENST00000301744.4	-	3	281	c.46T>C	c.(46-48)Ttt>Ctt	p.F16L	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	16	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F16L(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						AGATCCTCAAAGAGTATTGGT	0.498000													7	54					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49086776	49086776	+	Silent	SNP	T	T	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chrX:49086776T>A	ENST00000376265.2	-	6	784	c.723A>T	c.(721-723)gcA>gcT	p.A241A	CACNA1F_ENST00000376251.1_Silent_p.A176A|CACNA1F_ENST00000323022.5_Silent_p.A241A	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	241					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.A241A(2)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GCACGAGCAGTGCAATGTGCA	0.557000													5	9					0	0	1	0	0
GTF2I	2969	broad.mit.edu	37	7	74114631	74114631	+	Missense_Mutation	SNP	G	G	A	rs145729076		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:74114631G>A	ENST00000324896.4	+	5	817	c.428G>A	c.(427-429)cGa>cAa	p.R143Q	GTF2I_ENST00000353920.4_Missense_Mutation_p.R143Q|AC083884.8_ENST00000594967.1_RNA|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000416070.1_Missense_Mutation_p.R143Q|GTF2I_ENST00000346152.4_Missense_Mutation_p.R143Q|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000443166.1_Missense_Mutation_p.R143Q	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	143					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R143Q(2)		NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AAGATGCTGCGAGACCAGTCG	0.478000													24	311					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231109762	231109762	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:231109762G>A	ENST00000392045.3	+	6	745	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	SP140_ENST00000486687.2_Missense_Mutation_p.E211K|SP140_ENST00000417495.3_Missense_Mutation_p.E211K|SP140_ENST00000350136.5_Missense_Mutation_p.E191K|SP140_ENST00000343805.6_Missense_Mutation_p.E211K|SP140_ENST00000420434.3_Missense_Mutation_p.E211K	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	211					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E211K(2)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGGAGATGCTGAAGATGCACC	0.448000													26	292					0	0	1	0	0
RPL11	6135	broad.mit.edu	37	1	24021184	24021184	+	Missense_Mutation	SNP	C	C	T	rs11556036		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:24021184C>T	ENST00000374550.3	+	4	344	c.299C>T	c.(298-300)tCa>tTa	p.S100L	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	100					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	p.S100L(2)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		AACAACTTCTCAGATACTGGA	0.438000													8	35					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	145103245	145103245	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:145103245C>G	ENST00000367545.3	+	60	8820	c.8820C>G	c.(8818-8820)ctC>ctG	p.L2940L	UTRN_ENST00000367526.4_Silent_p.L495L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2940	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.L2940L(2)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATTGGTTGCTCAATGTCTATG	0.323000													35	59					0	0	1	0	0
GC	2638	broad.mit.edu	37	4	72634141	72634141	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr4:72634141G>T	ENST00000273951.8	-	3	481	c.138C>A	c.(136-138)gtC>gtA	p.V46V	GC_ENST00000504199.1_Silent_p.V65V|GC_ENST00000513476.1_Silent_p.V46V|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	46	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	p.V65V(2)|p.V46V(2)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TACTGTACAGGACTAGTGACC	0.468000													28	75					5.77227e-19	6.54052e-19	1	1	0
IL1RAPL1	11141	broad.mit.edu	37	X	29972752	29972752	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chrX:29972752G>C	ENST00000378993.1	+	10	1988	c.1315G>C	c.(1315-1317)Gaa>Caa	p.E439Q	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.E439Q	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	439	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.E439Q(4)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGATATGCTTGAAAAGCATTA	0.373000													35	49					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112604723	112604723	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:112604723G>C	ENST00000341068.3	-	16	2616	c.1844C>G	c.(1843-1845)tCt>tGt	p.S615C		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	615					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm		p.S615C(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						ACCTAACTCAGAGGTGGCAAT	0.328000													10	104					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99786150	99786150	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:99786150G>A	ENST00000426455.1	+	6	915	c.508G>A	c.(508-510)Gag>Aag	p.E170K	STAG3_ENST00000394018.2_Intron|STAG3_ENST00000317296.5_Missense_Mutation_p.E170K			Q9UJ98	STAG3_HUMAN	stromal antigen 3	170					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	p.E170K(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGTTTAATGAGGTGGAAGA	0.413000													104	549					0	0	1	0	0
CLPB	81570	broad.mit.edu	37	11	72145149	72145149	+	Missense_Mutation	SNP	C	C	A	rs139361195		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:72145149C>A	ENST00000294053.3	-	1	543	c.370G>T	c.(370-372)Gtt>Ttt	p.V124F	CLPB_ENST00000542555.1_5'UTR|CLPB_ENST00000445069.2_Intron|CLPB_ENST00000437826.2_Missense_Mutation_p.G43V|CLPB_ENST00000340729.5_Missense_Mutation_p.V124F|CLPB_ENST00000543042.1_Intron|CLPB_ENST00000538039.1_Missense_Mutation_p.V124F	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	124					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TAGCAATGAACCACCAGCGCT	0.582000											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	165					0.00307968	0.00314967	1	1	0
MLH1	4292	broad.mit.edu	37	3	37059088	37059088	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:37059088C>T	ENST00000231790.2	+	10	1098	c.882C>T	c.(880-882)ctC>ctT	p.L294L	MLH1_ENST00000536378.1_Silent_p.L53L|MLH1_ENST00000539477.1_Silent_p.L53L|MLH1_ENST00000458205.2_Silent_p.L53L|MLH1_ENST00000455445.2_Silent_p.L53L|MLH1_ENST00000435176.1_Silent_p.L196L	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	294			Missing (in HNPCC2).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.L294L(2)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TCCTGTACCTCAGGTAATGTA	0.418000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				27	88					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41105459	41105459	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:41105459T>G	ENST00000308370.7	+	3	338	c.338T>G	c.(337-339)cTg>cGg	p.L113R	LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.L76R|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	113					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	p.L113R(2)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGCAGCCACTGACGTGAGTG	0.637000													14	295					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156244470	156244470	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:156244470C>G	ENST00000361813.5	-	5	606	c.462G>C	c.(460-462)aaG>aaC	p.K154N	SMG5_ENST00000368267.4_Missense_Mutation_p.K154N	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	154					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	p.K154N(2)		NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					ACACTGGCTTCTTGCATCCTA	0.473000													22	93					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51261203	51261203	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:51261203G>A	ENST00000395542.2	-	3	513	c.329C>T	c.(328-330)tCa>tTa	p.S110L	COBL_ENST00000441453.1_Missense_Mutation_p.S110L|COBL_ENST00000395540.2_Missense_Mutation_p.S110L|COBL_ENST00000265136.7_Missense_Mutation_p.S110L			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	110								p.S110L(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTGGGTTTCTGAAGACCGAAT	0.423000													22	71					0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46608818	46608818	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:46608818G>A	ENST00000263734.3	+	13	2639	c.2129G>A	c.(2128-2130)cGa>cAa	p.R710Q		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	710					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	p.R710Q(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AAGCTGAAGCGACAGCTGGAG	0.617000													4	51					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51297694	51297694	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:51297694C>T	ENST00000266037.9	+	23	2315	c.2292C>T	c.(2290-2292)ttC>ttT	p.F764F		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	764						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.F764F(1)|p.F753F(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AAGAACTTTTCCAGTCCATCC	0.473000													6	34					0	0	1	0	0
FXR1	8087	broad.mit.edu	37	3	180671582	180671582	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:180671582C>T	ENST00000357559.4	+	9	1218	c.834C>T	c.(832-834)ttC>ttT	p.F278F	FXR1_ENST00000468861.1_Silent_p.F193F|FXR1_ENST00000480918.1_Silent_p.F265F|FXR1_ENST00000445140.2_Silent_p.F278F|FXR1_ENST00000305586.7_Silent_p.F193F|FXR1_ENST00000491062.1_Silent_p.F229F	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	278					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		p.F278F(2)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			CTAGAGGTTTCTTGGAATTTG	0.338000													24	132					0	0	1	0	0
NDUFC2	4718	broad.mit.edu	37	11	77790745	77790745	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:77790745C>T	ENST00000281031.4	-	1	520	c.46G>A	c.(46-48)Gag>Aag	p.E16K	NDUFC2-KCTD14_ENST00000528251.1_Missense_Mutation_p.E16K|NDUFC2_ENST00000525085.1_Missense_Mutation_p.E16K|NDUFC2_ENST00000528164.1_Missense_Mutation_p.E16K|NDUFC2_ENST00000527806.1_Missense_Mutation_p.E16K|NDUFC2-KCTD14_ENST00000530054.1_Missense_Mutation_p.E16K|NDUFC2_ENST00000534029.1_Missense_Mutation_p.E16K	NM_001204055.1|NM_004549.5	NP_001190984.1|NP_004540.1			NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa									p.E16K(1)		large_intestine(1)|lung(2)|prostate(1)	4	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			CTCCGGGCCTCATCCGGCAGA	0.612000													3	36					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39025783	39025783	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:39025783G>C	ENST00000355481.4	+	79	11478	c.11347G>C	c.(11347-11349)Gag>Cag	p.E3783Q	RYR1_ENST00000360985.3_Missense_Mutation_p.E3788Q|RYR1_ENST00000359596.3_Missense_Mutation_p.E3788Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3788					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.E3788Q(2)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCTCCAGGAGAGACAGGTGC	0.557000													15	173					0	0	1	0	0
TSC22D2	9819	broad.mit.edu	37	3	150128747	150128747	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:150128747A>T	ENST00000361875.2	+	1	2626	c.1610A>T	c.(1609-1611)cAg>cTg	p.Q537L	TSC22D2_ENST00000361136.2_Missense_Mutation_p.Q537L	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	537							sequence-specific DNA binding transcription factor activity	p.Q537L(2)		cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CCTCTGGCCCAGTCGCAACAG	0.602000													4	26					0	0	1	0	0
MYNN	55892	broad.mit.edu	37	3	169498415	169498415	+	Silent	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:169498415A>G	ENST00000349841.5	+	4	1761	c.1098A>G	c.(1096-1098)ggA>ggG	p.G366G	MYNN_ENST00000392733.1_Silent_p.G366G|MYNN_ENST00000356716.4_Silent_p.G366G|MYNN_ENST00000544106.1_Silent_p.G366G	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	366						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G366G(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			GTGATAAAGGATTTGCTCAGA	0.328000													3	28					0	0	1	0	0
ERI3	79033	broad.mit.edu	37	1	44785335	44785335	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:44785335C>T	ENST00000372257.2	-	4	752	c.571G>A	c.(571-573)Gta>Ata	p.V191I	ERI3_ENST00000372259.5_Missense_Mutation_p.V76I|ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000537474.1_Missense_Mutation_p.V14I	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	191	Exonuclease.					intracellular	exonuclease activity|metal ion binding|nucleic acid binding	p.V191I(2)		endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGATGGACTACAGGCTGGACA	0.517000													14	134					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65476147	65476147	+	Silent	SNP	T	T	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chrX:65476147T>A	ENST00000519389.1	+	17	3212	c.3033T>A	c.(3031-3033)acT>acA	p.T1011T	HEPH_ENST00000343002.2_Silent_p.T957T|HEPH_ENST00000374727.3_Silent_p.T960T|HEPH_ENST00000419594.1_Silent_p.T768T|HEPH_ENST00000336279.5_Silent_p.T690T|HEPH_ENST00000441993.2_Silent_p.T960T			Q9BQS7	HEPH_HUMAN	hephaestin	957	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.T957T(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGGATGAAACTTTCTTGGAGA	0.398000													10	128					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43893319	43893319	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:43893319C>T	ENST00000562955.1	+	25	3546	c.3546C>T	c.(3544-3546)gtC>gtT	p.V1182V	SZT2_ENST00000372442.1_Silent_p.V340V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1239						peroxisome		p.V340V(4)|p.V1182V(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGTGTCCTGTCTACATCTACA	0.602000													6	133					0	0	1	0	0
TICAM1	148022	broad.mit.edu	37	19	4817852	4817852	+	Missense_Mutation	SNP	G	G	A	rs141394423	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:4817852G>A	ENST00000248244.5	-	2	767	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	180					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|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|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity	p.R180C(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TCAATGGGGCGTGGGAGGCTC	0.647000													4	45					0	0	1	0	0
ASNS	440	broad.mit.edu	37	7	97486051	97486051	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:97486051G>A	ENST00000175506.4	-	9	1509	c.981C>T	c.(979-981)gtC>gtT	p.V327V	ASNS_ENST00000394309.3_Silent_p.V327V|ASNS_ENST00000455086.1_Silent_p.V244V|ASNS_ENST00000437628.1_Silent_p.V244V|ASNS_ENST00000422745.1_Silent_p.V306V|ASNS_ENST00000444334.1_Silent_p.V306V|ASNS_ENST00000394308.3_Silent_p.V327V	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	327	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	p.V327V(2)		ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGGAAAATATGACTTCATCCA	0.318000													7	98					0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148596502	148596502	+	Silent	SNP	T	T	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:148596502T>C	ENST00000296046.3	+	5	493	c.441T>C	c.(439-441)tcT>tcC	p.S147S	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	147					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	p.S147S(2)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AAATTGGATCTACTGTTGAAG	0.299000													44	160					0	0	1	0	0
DHRS9	10170	broad.mit.edu	37	2	169938312	169938312	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:169938312C>T	ENST00000327239.4	+	5	1725	c.221C>T	c.(220-222)tCa>tTa	p.S74L	DHRS9_ENST00000602501.1_Missense_Mutation_p.S74L|DHRS9_ENST00000436483.2_Missense_Mutation_p.S74L|DHRS9_ENST00000432060.2_Missense_Mutation_p.S134L|DHRS9_ENST00000428522.1_Missense_Mutation_p.S74L|DHRS9_ENST00000357546.2_Missense_Mutation_p.S74L|DHRS9_ENST00000412271.1_Missense_Mutation_p.S74L|DHRS9_ENST00000421653.1_5'UTR	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	74					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity	p.S74L(2)		breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GCAGAAACCTCAGAGAGACTT	0.468000													13	141					0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50192686	50192686	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr22:50192686G>A	ENST00000216267.8	-	3	2092	c.1606C>T	c.(1606-1608)Cgc>Tgc	p.R536C	BRD1_ENST00000342989.5_Missense_Mutation_p.R131C|BRD1_ENST00000404034.1_Missense_Mutation_p.R536C|BRD1_ENST00000542442.1_Missense_Mutation_p.R229C|BRD1_ENST00000404760.1_Missense_Mutation_p.R536C|BRD1_ENST00000457780.2_Missense_Mutation_p.R536C	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	536					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	p.R536C(2)|p.R131C(2)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ATCAGCAGGCGAGCGCGCTCC	0.622000													4	20					0	0	1	0	0
RGPD8	727851	broad.mit.edu	37	2	113190977	113190977	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:113190977G>A	ENST00000302558.3	-	1	245	c.54C>T	c.(52-54)ctC>ctT	p.L18L	RGPD8_ENST00000409750.1_Intron|RGPD8_ENST00000330575.5_Silent_p.L18L	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.L18L(2)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GCGACGGGGTGAGACCCAGCA	0.751000													10	10					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27535600	27535600	+	RNA	SNP	T	T	C	rs640284	by1000genomes	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr10:27535600T>C	ENST00000574842.1	+	0	255																											CACAGGTCAATTGCACATGGG	0.517000													6	157					0	0	1	0	0
TBC1D31	93594	broad.mit.edu	37	8	124146378	124146378	+	Missense_Mutation	SNP	G	G	A	rs144947635	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr8:124146378G>A	ENST00000287380.1	+	17	2521	c.2431G>A	c.(2431-2433)Gct>Act	p.A811T	TBC1D31_ENST00000522420.1_Missense_Mutation_p.A706T|TBC1D31_ENST00000521676.1_Missense_Mutation_p.A688T|TBC1D31_ENST00000518805.1_Missense_Mutation_p.A365T|TBC1D31_ENST00000378080.2_3'UTR|TBC1D31_ENST00000327098.5_Intron|TBC1D31_ENST00000309336.3_Missense_Mutation_p.A811T	NM_145647.3	NP_663622.2			TBC1 domain family, member 31									p.A811T(2)									TCGAGAAATTGCTGCCACAGC	0.318000													15	159					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112672	248112672	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:248112672G>T	ENST00000357191.3	+	1	513	c.513G>T	c.(511-513)agG>agT	p.R171S	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R171S(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GCCGATCCAGGGCCATCAATC	0.483000													116	563					3.88875e-62	4.65763e-62	1	1	0
PHKB	5257	broad.mit.edu	37	16	47723058	47723058	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:47723058G>C	ENST00000455779.1	+	28	2901	c.2716G>C	c.(2716-2718)Gat>Cat	p.D906H	PHKB_ENST00000299167.8_Missense_Mutation_p.D913H|PHKB_ENST00000323584.5_Missense_Mutation_p.D913H|PHKB_ENST00000566044.1_Missense_Mutation_p.D906H			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	913					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	p.D913H(4)|p.D906H(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GCTTCTGCTGGATATTCTGCA	0.428000													20	91					0	0	1	0	0
EVI5	7813	broad.mit.edu	37	1	93159385	93159385	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:93159385G>A	ENST00000370331.1	-	9	1212	c.1203C>T	c.(1201-1203)gtC>gtT	p.V401V	EVI5_ENST00000543509.1_Silent_p.V401V|EVI5_ENST00000540033.1_Silent_p.V401V	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	401	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	p.V401V(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		AATTGTATTTGACTTGGTAAG	0.308000													55	254					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79793823	79793823	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr4:79793823C>T	ENST00000335016.5	+	13	1830	c.1664C>T	c.(1663-1665)cCg>cTg	p.P555L	BMP2K_ENST00000502871.1_Missense_Mutation_p.P555L	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	555	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity	p.P555L(4)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						CAACATCAGCCGTCTCAACAA	0.443000													12	86					0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70133583	70133583	+	Translation_Start_Site	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr12:70133583G>A	ENST00000550536.1	+	0	414				RAB3IP_ENST00000378815.6_Intron|RAB3IP_ENST00000247833.7_Intron|RAB3IP_ENST00000325555.9_Intron|RAB3IP_ENST00000483530.2_Intron|RAB3IP_ENST00000362025.5_De_novo_Start_OutOfFrame	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein						cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CAGAAGTGATGATGCTGGGTG	0.547000													3	21					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77759506	77759506	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr13:77759506C>G	ENST00000407578.2	-	32	4717	c.4451G>C	c.(4450-4452)gGa>gCa	p.G1484A	MYCBP2_ENST00000357337.6_Missense_Mutation_p.G1446A|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.G1446A	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.G1446A(4)|p.G1484A(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AACTGCTTTTCCTGTAGCTTT	0.323000													87	215					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810208	106810208	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:106810208G>A	ENST00000526355.1	-	4	1652	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.S395F|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.S395F	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	395					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.S395F(2)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TTCAGAGCCAGAAGCCTCAGG	0.438000													40	330					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121463465	121463465	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr8:121463465G>C	ENST00000305949.1	+	4	373	c.328G>C	c.(328-330)Gaa>Caa	p.E110Q		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	110					cell cycle arrest			p.E110Q(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AGATAAAATTGAAGATGTTCT	0.308000													30	91					0	0	1	0	0
LNPEP	4012	broad.mit.edu	37	5	96350700	96350700	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:96350700G>A	ENST00000231368.5	+	13	2969	c.2277G>A	c.(2275-2277)gaG>gaA	p.E759E	LNPEP_ENST00000395770.3_Silent_p.E745E	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	759					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.E759E(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TTGGAAATGAGAACCATACTG	0.433000													50	220					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58580600	58580600	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:58580600C>T	ENST00000317147.5	-	28	4136	c.3804G>A	c.(3802-3804)gaG>gaA	p.E1268E	CNOT1_ENST00000569240.1_Silent_p.E1263E|CNOT1_ENST00000441024.2_Silent_p.E1268E|CNOT1_ENST00000245138.4_Silent_p.E119E	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1268					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.E1268E(4)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCTGATGTAGCTCAGCTAATA	0.388000													28	163					0	0	1	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40821518	40821518	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr17:40821518C>A	ENST00000293349.6	-	12	2556	c.2126G>T	c.(2125-2127)tGc>tTc	p.C709F	PLEKHH3_ENST00000591022.1_Missense_Mutation_p.C712F|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.C535F			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	712	FERM.				signal transduction	cytoskeleton		p.C712F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CATTAGCTGGCAGGCGGCCAC	0.657000													3	11					1	1	1	1	0
DENND1B	163486	broad.mit.edu	37	1	197576259	197576259	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:197576259C>G	ENST00000235453.4	-	13	1052	c.775G>C	c.(775-777)Gat>Cat	p.D259H	DENND1B_ENST00000367396.3_Missense_Mutation_p.D289H|DENND1B_ENST00000400967.2_Missense_Mutation_p.D259H			Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	289	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	p.D289H(2)|p.D259H(2)		NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						GTGTTTGTATCAACATTTAAC	0.294000													17	72					0	0	1	0	0
LOC101927905	101927905	broad.mit.edu	37	12	8388289	8388289	+	RNA	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr12:8388289G>A	ENST00000304751.9	+	0	279				FAM86FP_ENST00000427893.2_RNA														p.I124I(1)									CGTGAGAGATGATGGCTGTGC	0.592000													6	145					0	0	1	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062972	76062972	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:76062972G>A	ENST00000260045.3	-	5	1327	c.1222C>T	c.(1222-1224)Ctt>Ttt	p.L408F		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	408					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	p.L408F(2)		cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TTCTGAAAAAGAACAGAAATT	0.383000													21	35					0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151138818	151138818	+	Missense_Mutation	SNP	T	T	C	rs61730039	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chrX:151138818T>C	ENST00000370325.1	-	2	166	c.113A>G	c.(112-114)tAt>tGt	p.Y38C	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.Y38C			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	38					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.Y38C(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGGGCCATAGACAACATC	0.512000													6	107					0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247920842	247920842	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:247920842G>T	ENST00000408896.2	-	1	1140	c.867C>A	c.(865-867)atC>atA	p.I289I		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I289I(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TTAGGGTATAGATGAAAGGAT	0.458000													96	326					1.51934e-53	1.81285e-53	1	1	0
ST6GALNAC3	256435	broad.mit.edu	37	1	77094490	77094490	+	Nonstop_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:77094490G>C	ENST00000328299.3	+	5	1065	c.917G>C	c.(916-918)tGa>tCa	p.*306S		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	0					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.*306S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ACATTGTCTTGATAATGGTTT	0.398000													61	246					0	0	1	0	0
SLC38A11	151258	broad.mit.edu	37	2	165755217	165755217	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:165755217G>T	ENST00000303735.4	-	10	1215	c.885C>A	c.(883-885)ctC>ctA	p.L295L	SLC38A11_ENST00000409058.1_Silent_p.L348L|SLC38A11_ENST00000409662.1_Silent_p.L317L|SLC38A11_ENST00000409149.3_Silent_p.L317L	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	317					amino acid transport|sodium ion transport	integral to membrane		p.L295L(2)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TGATAAAAATGAGGGGAGTTG	0.408000													11	116					5.50884e-06	5.78428e-06	1	1	0
CETN3	1070	broad.mit.edu	37	5	89695226	89695226	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:89695226C>A	ENST00000283122.3	-	4	533	c.409G>T	c.(409-411)Gaa>Taa	p.E137*	CETN3_ENST00000522083.1_Nonsense_Mutation_p.E137*|CETN3_ENST00000522565.1_Nonsense_Mutation_p.E137*|CETN3_ENST00000522864.1_Intron	NM_004365.2	NP_004356.2	O15182	CETN3_HUMAN	centrin, EF-hand protein, 3	137	EF-hand 4.				cell division|centrosome cycle|mitosis	centriole	calcium ion binding	p.E137*(2)		lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		CGAAGTTCTTCATCACTCATG	0.358000													82	298					1.53667e-21	1.75381e-21	1	1	0
TACC2	10579	broad.mit.edu	37	10	123970013	123970013	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr10:123970013G>C	ENST00000369005.1	+	9	6413	c.6073G>C	c.(6073-6075)Gat>Cat	p.D2025H	TACC2_ENST00000453444.2_Missense_Mutation_p.D2029H|TACC2_ENST00000515273.1_Missense_Mutation_p.D2029H|TACC2_ENST00000358010.1_Missense_Mutation_p.D171H|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000515603.1_Missense_Mutation_p.D1980H|TACC2_ENST00000513429.1_Missense_Mutation_p.D171H|TACC2_ENST00000260733.3_Missense_Mutation_p.D103H|TACC2_ENST00000360561.3_Missense_Mutation_p.D103H|TACC2_ENST00000334433.3_Missense_Mutation_p.D2025H|TACC2_ENST00000369004.3_Missense_Mutation_p.D103H|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000368999.1_Missense_Mutation_p.D103H|TACC2_ENST00000369001.1_5'UTR	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2025						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.D2025H(2)|p.D2025N(1)		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)				TGCCGTCTTCGATGAAGACAA	0.552000													13	35					0	0	1	0	0
GPR35	2859	broad.mit.edu	37	2	241570284	241570284	+	Silent	SNP	C	C	T	rs142918765	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:241570284C>T	ENST00000319838.5	+	6	1857	c.915C>T	c.(913-915)tgC>tgT	p.C305C	GPR35_ENST00000407714.1_Silent_p.C305C|GPR35_ENST00000403859.1_Silent_p.C305C|GPR35_ENST00000438013.2_Silent_p.C336C|GPR35_ENST00000430267.1_Silent_p.C305C	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	305						integral to plasma membrane	G-protein coupled receptor activity	p.C305C(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		ACTCTCTGTGCGTGACCCTCG	0.642000													3	18					0	0	1	0	0
ARMC6	93436	broad.mit.edu	37	19	19154841	19154841	+	Silent	SNP	C	C	T	rs143674751	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:19154841C>T	ENST00000535612.1	+	4	669	c.237C>T	c.(235-237)gtC>gtT	p.V79V	ARMC6_ENST00000546344.1_Intron|ARMC6_ENST00000392336.3_Silent_p.V79V|ARMC6_ENST00000392335.2_Silent_p.V54V|ARMC6_ENST00000269932.6_Silent_p.V54V	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	79							protein binding	p.V79V(1)|p.V54V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CACCTAAAGTCTCTGCAGACG	0.572000													3	28					0	0	1	0	0
TMEM8C	389827	broad.mit.edu	37	9	136380685	136380685	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr9:136380685G>T	ENST00000339996.3	-	4	545	c.444C>A	c.(442-444)agC>agA	p.S148R	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	148						integral to membrane		p.S148R(2)		NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						GGGTGTAGACGCTCTTGTCTG	0.597000													14	31					6.72482e-11	7.27945e-11	1	1	0
TEX264	51368	broad.mit.edu	37	3	51718530	51718530	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:51718530C>T	ENST00000415259.1	+	3	1441	c.360C>T	c.(358-360)ttC>ttT	p.F120F	TEX264_ENST00000457573.1_Silent_p.F120F|TEX264_ENST00000395057.1_Silent_p.F120F|TEX264_ENST00000341333.5_Silent_p.F120F|TEX264_ENST00000416589.1_Silent_p.F120F|TEX264_ENST00000463857.1_3'UTR			Q9Y6I9	TX264_HUMAN	testis expressed 264	120						extracellular region		p.F120F(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		AATTTGGCTTCAAGGTGTTCT	0.592000													9	28					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110476724	110476724	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr8:110476724G>A	ENST00000378402.5	+	49	7767	c.7663G>A	c.(7663-7665)Gat>Aat	p.D2555N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2555					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.D2557N(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTTCTGAATGATGATGTGAC	0.443000										HNSCC(38;0.096)			27	137					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158489689	158489689	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:158489689C>T	ENST00000355585.4	+	13	1803	c.1728C>T	c.(1726-1728)agC>agT	p.S576S	SYNJ2_ENST00000367122.2_Silent_p.S576S|SYNJ2_ENST00000367121.3_Silent_p.S576S	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	576							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.S576S(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ATGACAGCAGCCCAGCTGACA	0.572000													3	42					0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14507264	14507264	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:14507264G>C	ENST00000242786.5	+	5	537	c.457G>C	c.(457-459)Gag>Cag	p.E153Q	CD97_ENST00000587728.1_Intron|CD97_ENST00000358600.3_Intron|CD97_ENST00000357355.3_Missense_Mutation_p.E153Q	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	153	EGF-like 3; calcium-binding (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.E153Q(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GTTCATACCTGAGGATCCGAA	0.597000													13	22					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1807188	1807188	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:1807188G>A	ENST00000539485.1	-	6	827	c.594C>T	c.(592-594)acC>acT	p.T198T	ATP8B3_ENST00000526092.1_Silent_p.T145T|ATP8B3_ENST00000525591.1_Silent_p.T145T|ATP8B3_ENST00000310127.6_Silent_p.T198T			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	198					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.T198T(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGTCCCGGGTGGCACGGA	0.652000													4	19					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25420074	25420074	+	RNA	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr15:25420074G>A	ENST00000441592.2	+	0	179				SNORD115-3_ENST00000363100.1_RNA																							GCCCTGGGTTGGGTCAATGAT	0.512000													20	88					0	0	1	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67854848	67854848	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:67854848G>T	ENST00000388833.3	+	3	469	c.92G>T	c.(91-93)cGa>cTa	p.R31L	TSNAXIP1_ENST00000415766.3_Intron|TSNAXIP1_ENST00000562321.1_Intron|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.R85L	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	31					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		p.R31L(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TACCGGAAGCGAGTAGGGTAA	0.597000													18	73					2.48551e-13	2.73753e-13	1	1	0
BCAS3	54828	broad.mit.edu	37	17	58946004	58946004	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr17:58946004C>G	ENST00000589222.1	+	8	612	c.544C>G	c.(544-546)Caa>Gaa	p.Q182E	BCAS3_ENST00000390652.5_Missense_Mutation_p.Q182E|BCAS3_ENST00000588462.1_Missense_Mutation_p.Q182E|BCAS3_ENST00000407086.3_Missense_Mutation_p.Q182E|BCAS3_ENST00000408905.3_Missense_Mutation_p.Q182E			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	182						nucleus		p.Q182E(2)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CAAGTCCATTCAATTTAAGAC	0.373000													22	91					0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242271010	242271010	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:242271010G>T	ENST00000442594.2	-	9	1435	c.926C>A	c.(925-927)gCg>gAg	p.A309E	PLD5_ENST00000427495.1_Missense_Mutation_p.A339E|PLD5_ENST00000536534.1_Missense_Mutation_p.A401E	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	401						integral to membrane	catalytic activity	p.A309E(2)|p.A401E(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AGTGCAAATCGCTTTAAGAGA	0.368000													75	269					2.43199e-30	2.81646e-30	1	1	0
NPPA	4878	broad.mit.edu	37	1	11907671	11907671	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:11907671C>G	ENST00000376480.3	-	1	169	c.71G>C	c.(70-72)aGa>aCa	p.R24T	NPPA-AS1_ENST00000400892.2_RNA|NPPA_ENST00000376476.1_Intron|NPPA-AS1_ENST00000446542.1_RNA	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	24					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity	p.R24T(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGATTAGCTCTGGTCTGACC	0.562000													15	68					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453193	140453193	+	Splice_Site	SNP	T	T	C	rs121913370		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:140453193T>C	ENST00000288602.6	-	15	1802	c.1741_splice	c.e15-1	p.N581_splice		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	581	Protein kinase.		N -> D (in CFC syndrome).|N -> S (in a colorectal adenocarcinoma sample; somatic mutation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.N581S(9)|p.N581I(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	AAGAAATATATCTGAGGTGTA	0.358000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				38	64					0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27389919	27389919	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:27389919G>A	ENST00000379214.4	-	18	2794	c.2351C>T	c.(2350-2352)tCt>tTt	p.S784F	LGR4_ENST00000389858.4_Missense_Mutation_p.S760F	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	784						integral to membrane|plasma membrane	protein-hormone receptor activity	p.S784F(2)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CAGAGTAACAGACTTCATTAT	0.403000													12	65					0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7045360	7045360	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr12:7045360C>G	ENST00000356654.4	+	5	1167	c.930C>G	c.(928-930)ctC>ctG	p.L310L	ATN1_ENST00000396684.2_Silent_p.L310L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	310					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	p.L310L(2)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGAGACCCCTCAACAATGCAT	0.637000													10	91					0	0	1	0	0
COG3	83548	broad.mit.edu	37	13	46056606	46056606	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr13:46056606C>T	ENST00000349995.5	+	6	827	c.715C>T	c.(715-717)Cat>Tat	p.H239Y		NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	239					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity	p.H239Y(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		TATCTCATCTCATGTAAGTCA	0.328000													3	21					0	0	1	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46120223	46120223	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:46120223C>T	ENST00000355105.3	-	6	1829	c.469G>A	c.(469-471)Gag>Aag	p.E157K	GPBP1L1_ENST00000290795.3_Missense_Mutation_p.E157K	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.E157K(2)	GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					ACAAAGTCCTCCTCTTCAAAC	0.388000													16	153					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505844	195505844	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:195505844T>A	ENST00000463781.3	-	2	13066	c.12607A>T	c.(12607-12609)Aca>Tca	p.T4203S	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T4203S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	966					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCGTGACCTGTGGATGCTGAG	0.597000													2	1					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215919366	215919366	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:215919366T>A	ENST00000272895.7	-	4	559	c.340A>T	c.(340-342)Aac>Tac	p.N114Y		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	114					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.N114Y(2)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTATCCAGGTTGGATGACTTT	0.393000													53	388					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768409	31768409	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:31768409C>A	ENST00000240587.4	-	2	2617	c.2290G>T	c.(2290-2292)Gcc>Tcc	p.A764S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	764					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A581S(2)|p.A764S(2)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGCGGGGTGGCCACAGCAGCC	0.602000													18	166					6.12954e-19	6.92044e-19	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48349715	48349715	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:48349715G>C	ENST00000435803.1	+	24	9517	c.9493G>C	c.(9493-9495)Gat>Cat	p.D3165H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3165					transport	integral to membrane	ATP binding|ATPase activity	p.D3165H(2)|p.D3110H(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCGAAACTTGGATGTGCGAGC	0.502000													52	388					0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53624648	53624648	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr13:53624648G>T	ENST00000219022.2	+	5	1353	c.1275G>T	c.(1273-1275)caG>caT	p.Q425H		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	425	Olfactomedin-like.				cell adhesion	extracellular space		p.Q425H(2)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ATACCAAGCAGTATAAACCAT	0.408000													20	133					7.33628e-21	8.3427e-21	1	1	0
PLCL1	5334	broad.mit.edu	37	2	198949863	198949863	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:198949863G>T	ENST00000428675.1	+	2	2020	c.1622G>T	c.(1621-1623)gGa>gTa	p.G541V	PLCL1_ENST00000437704.2_Missense_Mutation_p.G443V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	541	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.G541V(2)|p.G443V(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATTGTGAAAGGAAAGAAGTTG	0.388000													9	131					0.000442599	0.000455617	1	1	0
NIPAL4	348938	broad.mit.edu	37	5	156899773	156899773	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:156899773C>G	ENST00000311946.7	+	6	1322	c.1206C>G	c.(1204-1206)ttC>ttG	p.F402L	NIPAL4_ENST00000435489.2_Missense_Mutation_p.F383L|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	402						integral to membrane	receptor activity	p.F340L(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						TGGGCGTGTTCATGCTGCATG	0.547000													23	74					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211542708	211542708	+	Nonstop_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:211542708A>G	ENST00000233072.5	+	38	4698	c.4502A>G	c.(4501-4503)tAg>tGg	p.*1501W	CPS1_ENST00000430249.2_Nonstop_Mutation_p.*1507W|CPS1_ENST00000451903.2_Nonstop_Mutation_p.*1050W	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	0					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.*1501W(2)|p.*1507W(2)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AAAGCAGCATAGAGATGCAGA	0.433000													114	343					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62324310	62324310	+	Silent	SNP	C	C	T	rs12625047	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr20:62324310C>T	ENST00000318100.4	+	29	3632	c.2805C>T	c.(2803-2805)ctC>ctT	p.L935L	RTEL1_ENST00000370003.1_Silent_p.L180L|RTEL1_ENST00000370018.3_Silent_p.L935L|RTEL1_ENST00000508582.2_Silent_p.L959L|RTEL1_ENST00000360203.5_Silent_p.L935L|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.L935L			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	935					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCGCCTGTCTCGGCCCCCTCT	0.647000													5	3					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54914904	54914904	+	Splice_Site	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr12:54914904A>G	ENST00000293373.6	+	18	1839	c.1758_splice	c.e18-1	p.Y587_splice	NCKAP1L_ENST00000545638.2_Splice_Site_p.Y537_splice	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	587					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	p.Y587C(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TTCCCATAGTACCCCCACCTC	0.517000													29	120					0	0	1	0	0
SLMO2	51012	broad.mit.edu	37	20	57613539	57613539	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr20:57613539C>T	ENST00000355937.4	-	2	361	c.183G>A	c.(181-183)ctG>ctA	p.L61L	SLMO2_ENST00000371033.5_Silent_p.L61L	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	61	PRELI/MSF1.									endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			CAATGGAAGGCAGTCCCCACT	0.443000													4	45					0	0	1	0	0
ELOVL5	60481	broad.mit.edu	37	6	53156718	53156718	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:53156718G>A	ENST00000542638.1	-	3	549	c.102C>T	c.(100-102)ccC>ccT	p.P34P	ELOVL5_ENST00000486973.1_5'UTR|ELOVL5_ENST00000541407.1_Silent_p.P34P|ELOVL5_ENST00000304434.6_Silent_p.P34P|ELOVL5_ENST00000370918.4_Silent_p.P34P			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	34					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	p.P34P(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					AGATAAATGTGGGTATATAAT	0.318000													7	55					0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1238077	1238077	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:1238077A>C	ENST00000324642.3	+	5	757	c.634A>C	c.(634-636)Aca>Cca	p.T212P	SLC6A18_ENST00000296821.4_Missense_Mutation_p.T212P	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	212					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GATTTACTTCACAGCTTTGTT	0.512000													7	45					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26771546	26771546	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr22:26771546G>A	ENST00000529632.2	+	14	2996	c.2800G>A	c.(2800-2802)Gaa>Aaa	p.E934K	SEZ6L_ENST00000411842.2_Intron|SEZ6L_ENST00000402979.1_Missense_Mutation_p.E717K|SEZ6L_ENST00000360929.3_Missense_Mutation_p.E870K|SEZ6L_ENST00000248933.6_Missense_Mutation_p.E945K|SEZ6L_ENST00000404234.3_Missense_Mutation_p.E944K|SEZ6L_ENST00000343706.4_Missense_Mutation_p.E869K|SEZ6L_ENST00000403121.1_Missense_Mutation_p.E641K|SEZ6L_ENST00000494013.1_3'UTR	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	945						endoplasmic reticulum membrane|integral to membrane		p.E945K(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TTCAGTAGCAGAAGCGGCAGC	0.572000													15	40					0	0	1	0	0
DSTN	11034	broad.mit.edu	37	20	17581487	17581487	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr20:17581487C>T	ENST00000246069.6	+	2	454	c.108C>T	c.(106-108)gtC>gtT	p.V36V	DSTN_ENST00000543261.1_Silent_p.V19V|DSTN_ENST00000474024.1_3'UTR	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	36	ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding	p.V36V(2)		endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AGAAGGCTGTCATTTTTTGTC	0.393000													14	51					0	0	1	0	0
SEPT10	151011	broad.mit.edu	37	2	110301779	110301779	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:110301779A>C	ENST00000356688.4	-	12	1870	c.1555T>G	c.(1555-1557)Ttt>Gtt	p.F519V	SEPT10_ENST00000397714.2_3'UTR|SEPT10_ENST00000397712.2_3'UTR|SEPT10_ENST00000334001.6_3'UTR			Q9P0V9	SEP10_HUMAN	septin 10	0					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						TGTTCACCAAATATAGAAGTG	0.338000													6	3					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70351937	70351937	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chrX:70351937C>G	ENST00000333646.6	+	30	4333	c.4134C>G	c.(4132-4134)ctC>ctG	p.L1378L	MED12_ENST00000374080.3_Silent_p.L1378L|MED12_ENST00000374102.1_Silent_p.L1378L|MED12_ENST00000478889.1_Intron	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1378					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.L1378L(4)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGAACTCCCTCTTGGAGAACA	0.512000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						52	104					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185169074	185169074	+	Splice_Site	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:185169074G>A	ENST00000265026.3	+	7	1503		c.e7-1		MAP3K13_ENST00000443863.1_Splice_Site|MAP3K13_ENST00000446828.1_Splice_Site|MAP3K13_ENST00000424227.1_Splice_Site|MAP3K13_ENST00000535426.1_Splice_Site	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13						activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	p.?(4)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TTCACTTTTAGGCAGAGTAAA	0.383000													33	89					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130789733	130789733	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr8:130789733C>T	ENST00000276708.4	-	2	982	c.101G>A	c.(100-102)cGt>cAt	p.R34H		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	34						mitochondrion		p.R34H(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						AACAAACTGACGTAATTTGGT	0.403000													57	337					0	0	1	0	0
PCMTD2	55251	broad.mit.edu	37	20	62896764	62896764	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr20:62896764C>T	ENST00000308824.6	+	4	691	c.564C>T	c.(562-564)gtC>gtT	p.V188V	PCMTD2_ENST00000299468.7_Silent_p.V188V|PCMTD2_ENST00000369758.3_Silent_p.V188V	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	188						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	p.V188V(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGATCCTTGTCATGCCACTGG	0.468000													28	119					0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66358453	66358453	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:66358453C>T	ENST00000333861.3	-	1	2101	c.2034G>A	c.(2032-2034)ctG>ctA	p.L678L		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	678								p.L678L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TCTGCAGGCTCAGAATTTTGT	0.532000													5	8					0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158549566	158549566	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:158549566A>T	ENST00000368150.1	-	1	123	c.124T>A	c.(124-126)Ttt>Att	p.F42I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F42I(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ACAAAAAGAAATGTCTGTACA	0.418000													62	230					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113246694	113246694	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr8:113246694C>A	ENST00000297405.5	-	68	10884	c.10640G>T	c.(10639-10641)aGc>aTc	p.S3547I	CSMD3_ENST00000343508.3_Missense_Mutation_p.S3507I|CSMD3_ENST00000352409.3_Missense_Mutation_p.S3477I|CSMD3_ENST00000455883.2_Missense_Mutation_p.S3378I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3547						integral to membrane|plasma membrane		p.S3547I(2)|p.S3507I(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGCTTCCTGGCTTTTATATAC	0.323000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			23	168					1.16021e-09	1.24732e-09	1	1	0
ZNF546	339327	broad.mit.edu	37	19	40519640	40519640	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:40519640C>G	ENST00000347077.4	+	7	679	c.463C>G	c.(463-465)Caa>Gaa	p.Q155E	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.Q129E	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q155E(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTATTTATCTCAATTGCAGAC	0.313000													14	159					0	0	1	0	0
ZNF668	79759	broad.mit.edu	37	16	31073109	31073109	+	Silent	SNP	C	C	T	rs144972780	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:31073109C>T	ENST00000538906.1	-	3	1924	c.1140G>A	c.(1138-1140)acG>acA	p.T380T	ZNF668_ENST00000417110.2_Silent_p.F99F|ZNF668_ENST00000535577.1_Silent_p.T380T|ZNF668_ENST00000394983.2_Silent_p.T380T|ZNF668_ENST00000300849.4_Silent_p.T380T|ZNF668_ENST00000426488.2_Silent_p.T403T|ZNF668_ENST00000539836.3_Silent_p.T403T	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T380T(2)|p.T403T(2)		breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GGCTATGCTTCGTGAGGCTGG	0.672000													17	166					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121680889	121680889	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:121680889C>G	ENST00000393386.2	+	21	6068	c.5657C>G	c.(5656-5658)cCc>cGc	p.P1886R	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.P1019R	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1886	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.P1886R(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AAAGGAAGACCCAGTGGACGT	0.512000													31	117					0	0	1	0	0
FRMD8	83786	broad.mit.edu	37	11	65154527	65154527	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:65154527G>T	ENST00000317568.5	+	2	183	c.20G>T	c.(19-21)aGt>aTt	p.S7I	FRMD8_ENST00000355991.5_Missense_Mutation_p.S7I|FRMD8_ENST00000416776.2_Missense_Mutation_p.S7I|FRMD8_ENST00000531296.1_Missense_Mutation_p.S7I	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	7						cytoskeleton	binding	p.S7I(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						ACAGAAGGCAGTGCCGGGCAG	0.657000													13	29					4.93089e-13	5.41195e-13	1	1	0
SLC39A12	221074	broad.mit.edu	37	10	18292133	18292133	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr10:18292133C>G	ENST00000377369.2	+	12	2066	c.1793C>G	c.(1792-1794)tCt>tGt	p.S598C	SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12_ENST00000539911.1_Missense_Mutation_p.S464C|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S597C|SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S561C	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	598					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.S561C(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCTGGACTTTCTATGAAGACT	0.408000													23	137					0	0	1	0	0
CCDC146	57639	broad.mit.edu	37	7	76889471	76889471	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:76889471G>C	ENST00000285871.4	+	8	1031	c.904G>C	c.(904-906)Gaa>Caa	p.E302Q	CCDC146_ENST00000431197.1_Missense_Mutation_p.E48Q|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	302								p.E302Q(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AGCCTTACTTGAAATCAAAGA	0.348000													68	139					0	0	1	0	0
MOCS3	27304	broad.mit.edu	37	20	49575979	49575979	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr20:49575979C>T	ENST00000244051.1	+	1	617	c.600C>T	c.(598-600)ctC>ctT	p.L200L		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	200					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	p.L200L(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						GTCGGCCCCTCGTGTCTGCCA	0.602000													10	46					0	0	1	0	0
C16orf45	89927	broad.mit.edu	37	16	15677017	15677017	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:15677017C>A	ENST00000300006.4	+	5	783	c.424C>A	c.(424-426)Caa>Aaa	p.Q142K	C16orf45_ENST00000561692.1_Missense_Mutation_p.Q94K|C16orf45_ENST00000566490.1_Intron|C16orf45_ENST00000452191.2_Missense_Mutation_p.Q125K|C16orf45_ENST00000565913.1_3'UTR	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	142								p.Q142K(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						TCACAGGGAGCAAGAAGAAGA	0.378000													33	238					3.61848e-18	4.07079e-18	1	1	0
IGSF22	283284	broad.mit.edu	37	11	18735942	18735942	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:18735942C>T	ENST00000513874.1	-	13	1819	c.1680G>A	c.(1678-1680)caG>caA	p.Q560Q	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	560								p.Q560Q(4)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GCTTCACAATCTGCATGCCTG	0.597000													8	64					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222842	140222842	+	Missense_Mutation	SNP	C	C	T	rs146582216		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:140222842C>T	ENST00000531613.1	+	1	1936	c.1936C>T	c.(1936-1938)Cgt>Tgt	p.R646C	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R646C	NM_018911.2	NP_061734.1												p.R646C(4)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGCGCCACCGTCTGCTGGT	0.662000													13	164					0	0	1	0	0
TRIM7	81786	broad.mit.edu	37	5	180622504	180622504	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:180622504C>G	ENST00000393315.1	-	7	1271	c.574G>C	c.(574-576)Gag>Cag	p.E192Q	TRIM7_ENST00000422067.2_Missense_Mutation_p.E192Q|TRIM7_ENST00000393319.3_Missense_Mutation_p.E218Q|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000274773.7_Missense_Mutation_p.E400Q|TRIM7_ENST00000361809.3_Missense_Mutation_p.E192Q|CTC-338M12.6_ENST00000512508.1_RNA	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	400						cytoplasm|nucleus	zinc ion binding	p.E400Q(2)		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)		ACCTCCACCTCCCAGTGATGC	0.716000													4	12					0	0	1	0	0
GDAP2	54834	broad.mit.edu	37	1	118420645	118420645	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:118420645C>T	ENST00000369443.4	-	13	1681	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	GDAP2_ENST00000369442.3_Missense_Mutation_p.E478K	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	478	CRAL-TRIO.							p.E478K(2)		kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		GCATCATATTCAAGGACAAAA	0.453000													15	139					0	0	1	0	0
C2orf47	79568	broad.mit.edu	37	2	200824033	200824033	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:200824033G>C	ENST00000295079.2	+	3	815	c.493G>C	c.(493-495)Gat>Cat	p.D165H	C2orf47_ENST00000469156.1_3'UTR|C2orf47_ENST00000392290.1_Missense_Mutation_p.D165H	NM_024520.2	NP_078796.2	Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	165						mitochondrion		p.D165H(2)		cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						GTGTAAATTTGATCTGTTGGA	0.323000													8	59					0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107845160	107845160	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr4:107845160T>C	ENST00000285311.3	-	4	1436	c.731A>G	c.(730-732)gAt>gGt	p.D244G	DKK2_ENST00000510463.1_Missense_Mutation_p.D198G|DKK2_ENST00000513208.1_Missense_Mutation_p.D144G	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	244	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		p.D244G(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GTAGGTGGCATCTTTCCATAC	0.458000													36	326					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61538783	61538783	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:61538783G>C	ENST00000398571.2	-	27	3785	c.3709C>G	c.(3709-3711)Ctt>Gtt	p.L1237V		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1237					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.L1237V(2)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCAGCCCTAAGATCTGCTACC	0.353000													8	83					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423835	56423835	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:56423835G>C	ENST00000588751.1	-	5	1372	c.1348C>G	c.(1348-1350)Cag>Gag	p.Q450E	NLRP13_ENST00000342929.3_Missense_Mutation_p.Q450E			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	450	NACHT.						ATP binding	p.Q450E(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GTGGTAGTCTGAGTGATTGAC	0.502000													33	162					0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32844370	32844370	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:32844370C>G	ENST00000311921.3	+	2	826	c.634C>G	c.(634-636)Cca>Gca	p.P212A	ZNF507_ENST00000355898.5_Missense_Mutation_p.P212A|ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000544431.1_Missense_Mutation_p.P212A	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P212A(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TGAAACCATTCCAGATATCCC	0.453000													26	129					0	0	1	0	0
GARS	2617	broad.mit.edu	37	7	30661020	30661020	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:30661020G>A	ENST00000389266.3	+	11	1612	c.1371G>A	c.(1369-1371)gaG>gaA	p.E457E		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	457					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	p.E457E(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GTTGGATTGAGATTGTTGGAT	0.368000													48	235					0	0	1	0	0
POLK	51426	broad.mit.edu	37	5	74880722	74880722	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:74880722C>T	ENST00000241436.4	+	9	1369	c.1197C>T	c.(1195-1197)tcC>tcT	p.S399S	POLK_ENST00000515295.1_Silent_p.S399S|POLK_ENST00000504026.1_Silent_p.S399S|POLK_ENST00000352007.5_Intron|POLK_ENST00000380481.3_Silent_p.S309S|POLK_ENST00000508526.1_Intron|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	399					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	p.S399S(4)		endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TTCATATCTCCTTGGGTCTAG	0.388000								DNA polymerases (catalytic subunits)					10	190					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2807567	2807567	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:2807567G>A	ENST00000301740.8	+	3	886	c.337G>A	c.(337-339)Ggg>Agg	p.G113R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	113						Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	p.G113R(1)		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						GGAGACCCCAGGGCAGAGGCC	0.567000													15	100					0	0	1	0	0
UBAP2	55833	broad.mit.edu	37	9	33963754	33963754	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr9:33963754G>C	ENST00000379238.1	-	9	832	c.715C>G	c.(715-717)Ctg>Gtg	p.L239V	UBAP2_ENST00000449054.1_Missense_Mutation_p.L239V|UBAP2_ENST00000379239.4_De_novo_Start_InFrame|UBAP2_ENST00000418786.2_Missense_Mutation_p.L186V|UBAP2_ENST00000360802.1_Missense_Mutation_p.L239V|UBAP2_ENST00000539807.1_Intron			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	239								p.L239V(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TTGTTTGACAGATCCTGAGCT	0.284000													12	104					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240497523	240497523	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:240497523T>G	ENST00000319653.9	+	13	4989	c.4759T>G	c.(4759-4761)Ttg>Gtg	p.L1587V	FMN2_ENST00000545751.1_Missense_Mutation_p.L183V	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1587	FH2.				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	p.L1730V(2)		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)			GAAGAAAGACTTGAAAGGTAA	0.353000													19	314					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33581687	33581687	+	Splice_Site	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:33581687A>G	ENST00000170564.2	+	3	524	c.208_splice	c.e3-1	p.G70_splice		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	70						catalytic step 2 spliceosome	nucleic acid binding	p.G70G(2)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TTTTTTCAGGATGGACACCCT	0.373000													5	78					0	0	1	0	0
LGALS9	3965	broad.mit.edu	37	17	25967714	25967714	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr17:25967714G>T	ENST00000395473.2	+	3	1716	c.248G>T	c.(247-249)gGg>gTg	p.G83V	LGALS9_ENST00000313648.6_Missense_Mutation_p.G83V|LGALS9_ENST00000310394.5_Missense_Mutation_p.G83V|AC015688.3_ENST00000584605.1_3'UTR|LGALS9_ENST00000302228.5_Missense_Mutation_p.G83V|LGALS9_ENST00000448970.2_3'UTR|LGALS9_ENST00000413914.2_Missense_Mutation_p.G26V	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	83	Beta-galactoside binding 1.|Galectin 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	p.G83V(2)		endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GGAAGCTGGGGGCCCGAGGAG	0.547000													40	110					1.19451e-25	1.36826e-25	1	1	0
GCAT	23464	broad.mit.edu	37	22	38211697	38211697	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr22:38211697T>C	ENST00000323205.6	+	7	983	c.920T>C	c.(919-921)cTg>cCg	p.L307P	GCAT_ENST00000248924.6_Missense_Mutation_p.L281P	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	281					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.L281P(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CCTGGGCCCCTGGTGTCCCTG	0.652000													5	26					0	0	1	0	0
CSAG4	100130935	broad.mit.edu	37	X	151896589	151896589	+	RNA	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chrX:151896589C>A	ENST00000361201.4	-	0	351					NR_073432.1													p.L11F(1)		endometrium(2)|kidney(2)|lung(1)	5						GGTTGTTGGACAATGGGCTGG	0.557000													17	468					4.96729e-08	5.30406e-08	1	1	0
CD59	966	broad.mit.edu	37	11	33743968	33743968	+	Silent	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:33743968G>C	ENST00000395850.3	-	2	99	c.24C>G	c.(22-24)gtC>gtG	p.V8V	CD59_ENST00000527577.1_Silent_p.V8V|CD59_ENST00000437761.2_Silent_p.V8V|CD59_ENST00000534312.1_Silent_p.V8V|CD59_ENST00000528700.1_Silent_p.V8V|CD59_ENST00000415002.2_Silent_p.V8V|CD59_ENST00000351554.3_Silent_p.V8V|CD59_ENST00000426650.2_Silent_p.V8V|CD59_ENST00000445143.2_Silent_p.V8V|CD59_ENST00000533403.1_Silent_p.V8V	NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2	NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1	P13987	CD59_HUMAN	CD59 molecule, complement regulatory protein	8					blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction		p.V8V(2)		endometrium(1)|lung(2)	3						GCCCGAACAGGACAGACCCTC	0.537000													16	70					0	0	1	0	0
IWS1	55677	broad.mit.edu	37	2	128263325	128263325	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:128263325C>A	ENST00000295321.4	-	3	413	c.154G>T	c.(154-156)Gaa>Taa	p.E52*	IWS1_ENST00000486662.1_5'UTR|IWS1_ENST00000455721.2_Nonsense_Mutation_p.E59*|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	52					transcription, DNA-dependent	nucleus	DNA binding	p.E52*(2)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TCACTAGTTTCATTCTGAAAA	0.308000													11	71					0.00829132	0.00842505	1	1	0
ACTN2	88	broad.mit.edu	37	1	236908017	236908017	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:236908017C>G	ENST00000366578.4	+	12	1513	c.1347C>G	c.(1345-1347)agC>agG	p.S449R	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.S449R	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	449					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	p.S449R(2)		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)			CGTTCGAGAGCGACCTGGCAG	0.642000													21	53					0	0	1	0	0
SBSN	374897	broad.mit.edu	37	19	36017721	36017721	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:36017721C>A	ENST00000452271.2	-	1	1491	c.1463G>T	c.(1462-1464)gGg>gTg	p.G488V	SBSN_ENST00000518157.1_Missense_Mutation_p.G145V	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	145						extracellular region		p.G488V(2)|p.G145V(2)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGCTTCCTTCCCAGCCTGGTG	0.597000													9	56					1.58986e-06	1.67494e-06	1	1	0
MCTP1	79772	broad.mit.edu	37	5	94248517	94248517	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:94248517C>G	ENST00000515393.1	-	9	1514	c.1515G>C	c.(1513-1515)aaG>aaC	p.K505N	MCTP1_ENST00000429576.2_Missense_Mutation_p.K238N|MCTP1_ENST00000505078.1_Missense_Mutation_p.K21N|MCTP1_ENST00000312216.8_Missense_Mutation_p.K284N|MCTP1_ENST00000505208.1_Missense_Mutation_p.K284N	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	505	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.K505N(2)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTACCTTGCTCTTGTACTTCT	0.458000													35	165					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41597726	41597726	+	Silent	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:41597726C>A	ENST00000330436.3	+	5	744	c.744C>A	c.(742-744)atC>atA	p.I248I		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	248					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	AGGACTTCATCGCCAAGAAGG	0.557000													6	137					2.52707e-12	2.75442e-12	1	1	0
KDM5A	5927	broad.mit.edu	37	12	416901	416901	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr12:416901G>A	ENST00000399788.2	-	23	4011	c.3649C>T	c.(3649-3651)Cgg>Tgg	p.R1217W	KDM5A_ENST00000382815.4_Missense_Mutation_p.R1217W	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1217					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1217W(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CTTCGAGACCGCATACAAAGA	0.483000			T	NUP98	AML								5	101					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068944	9068944	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:9068944C>G	ENST00000397910.4	-	3	18705	c.18502G>C	c.(18502-18504)Ggc>Cgc	p.G6168R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6170	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G6168R(4)|p.G1801R(2)		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						GTCAGTTGGCCAAGAGATGTC	0.488000													73	204					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38790666	38790666	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:38790666G>T	ENST00000359357.3	+	25	3179	c.2925G>T	c.(2923-2925)ggG>ggT	p.G975G	DNAH8_ENST00000449981.2_Silent_p.G1192G|DNAH8_ENST00000441566.1_Silent_p.G975G					dynein, axonemal, heavy chain 8									p.G975G(4)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTACCCGGGGGTAGCGGAGC	0.413000													4	32					0.00909568	0.00921267	1	1	0
CCDC60	160777	broad.mit.edu	37	12	119916949	119916949	+	Missense_Mutation	SNP	G	G	A	rs144234053		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr12:119916949G>A	ENST00000327554.2	+	4	857	c.392G>A	c.(391-393)cGc>cAc	p.R131H	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	131								p.R131H(3)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GTCACACGTCGCCCATTCACT	0.473000													42	316					0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114438396	114438396	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:114438396G>T	ENST00000369569.1	-	9	2055	c.1775C>A	c.(1774-1776)tCa>tAa	p.S592*	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000369567.1_Nonsense_Mutation_p.S424*|AP4B1_ENST00000256658.4_Nonsense_Mutation_p.S592*	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	592					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	p.S592*(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCAAAGGATGAAGTTTTAGG	0.443000													22	115					1.64293e-13	1.81587e-13	1	1	0
HOXB1	3211	broad.mit.edu	37	17	46608134	46608134	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr17:46608134C>T	ENST00000239174.6	-	1	225	c.133G>A	c.(133-135)Gag>Aag	p.E45K	HOXB1_ENST00000577092.1_Missense_Mutation_p.E45K	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	45						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	p.E45K(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TAGCGGCCCTCGCTTGCATAG	0.682000													13	46					0	0	1	0	0
EML2	24139	broad.mit.edu	37	19	46116895	46116895	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:46116895G>C	ENST00000536630.1	-	21	2307	c.2169C>G	c.(2167-2169)atC>atG	p.I723M	EML2_ENST00000245925.3_Missense_Mutation_p.I576M|EML2_ENST00000589876.1_Missense_Mutation_p.I576M|EML2_ENST00000587152.1_Missense_Mutation_p.I777M	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	576					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	p.I576M(2)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CCACAGCGTTGATATCAGTGC	0.567000													6	115					0	0	1	0	0
CCDC90B	60492	broad.mit.edu	37	11	82985720	82985720	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:82985720C>G	ENST00000529689.1	-	4	822	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	CCDC90B_ENST00000529611.1_Missense_Mutation_p.E29Q|CCDC90B_ENST00000525503.1_Missense_Mutation_p.E29Q|CCDC90B_ENST00000529073.1_Missense_Mutation_p.E130Q|CCDC90B_ENST00000455220.2_Missense_Mutation_p.E121Q			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	130						integral to membrane|mitochondrion		p.E130Q(2)		kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TCACTTTTCTCTAGGATGACC	0.308000													34	68					0	0	1	0	0
PTBP3	9991	broad.mit.edu	37	9	115024748	115024748	+	Silent	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr9:115024748G>C	ENST00000334318.6	-	6	762	c.576C>G	c.(574-576)ctC>ctG	p.L192L	PTBP3_ENST00000487997.1_5'UTR|PTBP3_ENST00000374255.2_Silent_p.L189L|PTBP3_ENST00000374257.1_Silent_p.L161L|PTBP3_ENST00000458258.1_Silent_p.L195L|PTBP3_ENST00000343327.2_Silent_p.L94L	NM_001163790.2|NM_005156.6	NP_001157262.1|NP_005147.3	O95758	ROD1_HUMAN	polypyrimidine tract binding protein 3	189	RRM 2.				anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding	p.L189L(2)									CAGGGTAAAAGAGGTTTTCAA	0.433000													32	121					0	0	1	0	0
PREPL	9581	broad.mit.edu	37	2	44569580	44569580	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:44569580C>T	ENST00000541738.1	-	5	847	c.461G>A	c.(460-462)cGc>cAc	p.R154H	PREPL_ENST00000378520.3_Missense_Mutation_p.R243H|PREPL_ENST00000260648.6_Missense_Mutation_p.R243H|PREPL_ENST00000410081.1_Missense_Mutation_p.R243H|PREPL_ENST00000409936.1_Missense_Mutation_p.R243H|PREPL_ENST00000409957.1_Missense_Mutation_p.R154H|PREPL_ENST00000409411.1_Missense_Mutation_p.R154H|PREPL_ENST00000409272.1_Missense_Mutation_p.R243H|PREPL_ENST00000378511.3_Missense_Mutation_p.R243H	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	243					proteolysis	cytosol	serine-type endopeptidase activity	p.R243H(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGTGTAAAAGCGTTCATTACG	0.378000													39	105					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37396654	37396654	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:37396654G>T	ENST00000361924.2	+	22	7013	c.6639G>T	c.(6637-6639)ttG>ttT	p.L2213F	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.L2228F	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2213	GRIP.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	p.L2213_E2214>F*(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGAAAATTTTGGAAAGAGAAG	0.388000													39	230					1.0096e-33	1.17787e-33	1	1	0
MACF1	23499	broad.mit.edu	37	1	39797800	39797800	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:39797800C>T	ENST00000564288.1	+	37	6317	c.5540C>T	c.(5539-5541)tCa>tTa	p.S1847L	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.S1884L|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.S1852L|MACF1_ENST00000289893.4_Missense_Mutation_p.S287L|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1852					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.S287L(2)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCCTCTGGTCATTCATGGGG	0.463000													47	174					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78583831	78583831	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr12:78583831G>T	ENST00000397909.2	+	34	6296	c.6123G>T	c.(6121-6123)agG>agT	p.R2041S	NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000266692.7_Missense_Mutation_p.R1842S|NAV3_ENST00000228327.6_Missense_Mutation_p.R2019S|NAV3_ENST00000536525.2_Missense_Mutation_p.R2019S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2041						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.R2019S(2)		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						TTACCCAAAGGTACTTTAACT	0.348000										HNSCC(70;0.22)			17	229					1.33834e-09	1.43393e-09	1	1	0
OR6T1	219874	broad.mit.edu	37	11	123814524	123814524	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:123814524G>A	ENST00000321252.2	-	1	56	c.22C>T	c.(22-24)Cag>Tag	p.Q8*		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q8*(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		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;0.0401)		CTTGTTACCTGAGTCCAGTTT	0.463000													10	316					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1133330	1133330	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:1133330C>T	ENST00000308624.5	+	5	477	c.348C>T	c.(346-348)ttC>ttT	p.F116F	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	116	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	p.F116F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GGATGTTGTTCGTAGGAGATG	0.378000													5	65					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137225	40137225	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:40137225C>A	ENST00000278198.2	-	2	2581	c.618G>T	c.(616-618)atG>atT	p.M206I	LRRC4C_ENST00000528697.1_Missense_Mutation_p.M206I|LRRC4C_ENST00000530763.1_Missense_Mutation_p.M206I|LRRC4C_ENST00000527150.1_Missense_Mutation_p.M206I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	206					regulation of axonogenesis	integral to membrane	protein binding	p.M206I(2)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAAGGTTGCACATGGCAAGGT	0.463000													12	95					0.000219431	0.000228877	1	1	0
RUFY1	80230	broad.mit.edu	37	5	178996340	178996340	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:178996340G>A	ENST00000377001.2	+	5	742	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	RUFY1_ENST00000437570.2_Missense_Mutation_p.E140K|RUFY1_ENST00000393438.2_Missense_Mutation_p.E140K|RUFY1_ENST00000319449.4_Missense_Mutation_p.E248K			Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	248	RUN.				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	p.E140K(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGGAGGAAGAAGGGATGGT	0.478000										HNSCC(44;0.11)			24	219					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45267266	45267266	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:45267266T>A	ENST00000303230.4	-	7	1765	c.1708A>T	c.(1708-1710)Aac>Tac	p.N570Y		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	570						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.N570Y(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGGACCTCGTTGAAATTGTCC	0.433000													11	233					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181480642	181480642	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:181480642A>G	ENST00000526775.1	+	3	673	c.508A>G	c.(508-510)Agt>Ggt	p.S170G	CACNA1E_ENST00000357570.5_Missense_Mutation_p.S121G|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S170G|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S170G|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S170G|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S121G	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	170					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.S170G(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGTGGTCCTCAGTGGGTAAGT	0.522000													54	247					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	166958699	166958699	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:166958699C>T	ENST00000392766.2	-	21	2625	c.2285G>A	c.(2284-2286)gGa>gAa	p.G762E	ZBBX_ENST00000392767.2_Missense_Mutation_p.G762E|ZBBX_ENST00000307529.5_Missense_Mutation_p.G801E|ZBBX_ENST00000455345.2_Missense_Mutation_p.G801E|ZBBX_ENST00000392764.1_Missense_Mutation_p.G733E	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	762						intracellular	zinc ion binding	p.G801E(2)|p.G762E(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GGTATCTCTTCCAGAACAGCT	0.378000													28	125					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90857737	90857737	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr4:90857737C>A	ENST00000394980.1	+	7	3225	c.2906C>A	c.(2905-2907)cCa>cAa	p.P969Q	MMRN1_ENST00000508372.1_Missense_Mutation_p.P711Q|MMRN1_ENST00000264790.2_Missense_Mutation_p.P969Q|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	969					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.P969Q(2)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTTGTGGAACCAATAATTCAA	0.383000													4	43					0.150653	0.151616	1	1	0
TTC23	64927	broad.mit.edu	37	15	99696503	99696503	+	Splice_Site	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr15:99696503C>T	ENST00000394132.2	-	12	1811		c.e12-1		TTC23_ENST00000558613.1_Splice_Site|TTC23_ENST00000262074.4_Splice_Site|TTC23_ENST00000394130.1_Splice_Site|TTC23_ENST00000394135.3_Splice_Site|TTC23_ENST00000558663.1_Splice_Site|TTC23_ENST00000394129.2_Splice_Site|TTC23_ENST00000394136.1_Splice_Site			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23								binding	p.?(2)		endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			AGGTTGCTCTCTGTGAAAGGA	0.488000													20	57					0	0	1	0	0
KLHL15	80311	broad.mit.edu	37	X	24006555	24006555	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chrX:24006555C>G	ENST00000328046.8	-	4	1553	c.1298G>C	c.(1297-1299)gGa>gCa	p.G433A		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	433								p.G433A(2)		autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						TGAGGTGATTCCACCGGTGAT	0.453000													66	101					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18430067	18430067	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr8:18430067G>A	ENST00000440756.2	-	14	2863	c.2761C>T	c.(2761-2763)Ctg>Ttg	p.L921L	PSD3_ENST00000286485.8_Silent_p.L385L|PSD3_ENST00000428502.2_Silent_p.L248L|PSD3_ENST00000523619.1_Silent_p.L854L|PSD3_ENST00000327040.8_Silent_p.L919L			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	920					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.L921L(2)|p.L385L(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GTGGCAGGCAGAAGTGGGCGG	0.408000													40	180					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	146997641	146997641	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:146997641G>C	ENST00000265272.5	-	19	2646	c.2179C>G	c.(2179-2181)Cta>Gta	p.L727V	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.L685V|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.L706V	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	727						Golgi apparatus		p.L727V(2)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTGCTGTAGAGCATTGTAC	0.408000													71	296					0	0	1	0	0
UQCRQ	27089	broad.mit.edu	37	5	132203218	132203218	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:132203218G>C	ENST00000378670.3	+	3	334	c.193G>C	c.(193-195)Gaa>Caa	p.E65Q	UQCRQ_ENST00000378665.1_Missense_Mutation_p.E65Q|UQCRQ_ENST00000378667.1_Missense_Mutation_p.E65Q|UQCRQ_ENST00000496429.1_3'UTR	NM_014402.4	NP_055217.2	O14949	QCR8_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa	65					respiratory electron transport chain	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity	p.E65Q(2)		lung(3)	3		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGGGGGACTGAAGAGTTCGA	0.388000													7	34					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152295239	152295239	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:152295239G>A	ENST00000243326.4	+	13	2008	c.1525G>A	c.(1525-1527)Gtg>Atg	p.V509M	RIF1_ENST00000444746.2_Missense_Mutation_p.V509M|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000453091.2_Missense_Mutation_p.V509M|RIF1_ENST00000428287.2_Missense_Mutation_p.V509M|RIF1_ENST00000430328.2_Missense_Mutation_p.V509M			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	509					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	p.V509M(2)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AATTAGCTTGGTGAAGTCAGT	0.348000													18	53					0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127420138	127420138	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:127420138C>T	ENST00000262461.2	+	1	681	c.492C>T	c.(490-492)gtC>gtT	p.V164V	SLC12A2_ENST00000343225.4_Silent_p.V164V	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	164					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	p.V164V(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGGTCGGAGTCGACGGGCCCA	0.701000													5	6					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55703100	55703100	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:55703100G>A	ENST00000376350.3	-	11	2289	c.2267C>T	c.(2266-2268)gCc>gTc	p.A756V	PTPRH_ENST00000263434.5_Missense_Mutation_p.A578V	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	756					apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.A756V(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AAAGGCTCCGGCAATGACCCC	0.602000													3	34					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79933747	79933747	+	Splice_Site	SNP	T	T	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr14:79933747T>G	ENST00000281127.7	+	2	1308		c.e2+2		NRXN3_ENST00000554719.1_Splice_Site|NRXN3_ENST00000556003.1_Splice_Site|NRXN3_ENST00000428277.2_Splice_Site|NRXN3_ENST00000557594.1_Splice_Site|NRXN3_ENST00000335750.5_Splice_Site	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3						angiogenesis|cell adhesion	integral to membrane		p.?(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTTCACATAGTGAGTACAGGG	0.512000													12	115					0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133099400	133099400	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:133099400G>A	ENST00000515826.1	+	3	968	c.845G>A	c.(844-846)aGa>aAa	p.R282K	TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.R282K|TMEM108_ENST00000321871.6_Missense_Mutation_p.R282K			Q6UXF1	TM108_HUMAN	transmembrane protein 108	282						integral to membrane		p.R282K(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCCTTCGCAGAGCAGCCCAG	0.647000													5	38					0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187149394	187149394	+	Silent	SNP	T	T	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr4:187149394T>A	ENST00000264690.6	+	2	232	c.45T>A	c.(43-45)gcT>gcA	p.A15A	KLKB1_ENST00000513864.1_Silent_p.A15A	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	15					blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	p.A15A(4)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CCTTGTTTGCTACAGTTTCCT	0.353000													4	43					0	0	1	0	0
CETN1	1068	broad.mit.edu	37	18	580703	580703	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr18:580703G>A	ENST00000327228.3	+	1	337	c.295G>A	c.(295-297)Gag>Aag	p.E99K		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	99	EF-hand 2.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	p.E99K(2)		breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GAAGATGTCCGAGAAGGACAC	0.507000													4	86					0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56183268	56183268	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:56183268C>G	ENST00000399503.3	+	18	4178	c.4178C>G	c.(4177-4179)gCc>gGc	p.A1393G		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1393	Protein kinase.				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	p.A1230G(2)|p.A1393G(2)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GGAGCTGCAGCCAGGTTGGCA	0.443000													34	227					0	0	1	0	0
ISG20L2	81875	broad.mit.edu	37	1	156697208	156697208	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:156697208C>A	ENST00000313146.6	-	1	1019	c.237G>T	c.(235-237)aaG>aaT	p.K79N	ISG20L2_ENST00000368219.1_Missense_Mutation_p.K79N	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	79					ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding	p.K79N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGCTGTCTTCTTTTTTGGGA	0.522000											OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	31					0.004672	0.00476272	1	1	0
SLC1A2	6506	broad.mit.edu	37	11	35302424	35302424	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:35302424C>T	ENST00000278379.3	-	9	1693	c.1411G>A	c.(1411-1413)Gac>Aac	p.D471N	SLC1A2_ENST00000479543.1_5'UTR|SLC1A2_ENST00000606205.1_Missense_Mutation_p.D471N|SLC1A2_ENST00000395750.1_Missense_Mutation_p.D462N|SLC1A2_ENST00000395753.1_Missense_Mutation_p.D462N	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	471					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.D471N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	AGCAGCCAGTCCACAGCCACC	0.602000													11	319					0	0	1	0	0
C12orf56	115749	broad.mit.edu	37	12	64678484	64678484	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr12:64678484C>G	ENST00000543942.2	-	8	1896	c.1270G>C	c.(1270-1272)Gaa>Caa	p.E424Q	RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Missense_Mutation_p.E264Q|C12orf56_ENST00000536975.1_5'UTR	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	427								p.E264Q(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		GACTCGGTTTCTGTTTCTCTG	0.373000													22	70					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179605502	179605502	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:179605502T>A	ENST00000589042.1	-	48	12682	c.12458A>T	c.(12457-12459)cAg>cTg	p.Q4153L	TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q3915L|TTN_ENST00000342175.6_Missense_Mutation_p.Q3982L|TTN_ENST00000591111.1_Missense_Mutation_p.Q3836L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q3790L|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3836							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Q3915L(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTACAATCTGCAGCTGTAG	0.458000													71	177					0	0	1	0	0
GPR183	1880	broad.mit.edu	37	13	99947431	99947431	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr13:99947431C>G	ENST00000376414.4	-	2	1052	c.969G>C	c.(967-969)ctG>ctC	p.L323L	UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	323					humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.L323L(2)		cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						CTTGCCGTTTCAGCATCCTCA	0.408000													36	136					0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151138777	151138777	+	Missense_Mutation	SNP	C	C	T	rs61730040	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chrX:151138777C>T	ENST00000370325.1	-	2	207	c.154G>A	c.(154-156)Gag>Aag	p.E52K	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.E52K			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	52					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.E52K(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGTTTCCTCAGAGAGGAGC	0.507000													6	114					0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24756942	24756942	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:24756942C>A	ENST00000545231.1	-	7	1286	c.136G>T	c.(136-138)Gag>Tag	p.E46*	DFNA5_ENST00000409775.3_Nonsense_Mutation_p.E210*|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409970.1_Nonsense_Mutation_p.E46*|DFNA5_ENST00000342947.3_Nonsense_Mutation_p.E210*|DFNA5_ENST00000419307.1_Nonsense_Mutation_p.E46*			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	210					sensory perception of sound			p.E210*(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GCTGGGATCTCCAGCACCACG	0.587000													22	75					4.59853e-10	4.96074e-10	1	1	0
CENPT	80152	broad.mit.edu	37	16	67865073	67865073	+	Missense_Mutation	SNP	G	G	A	rs8052287	by1000genomes	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:67865073G>A	ENST00000445712.2	-	6	686	c.440C>T	c.(439-441)cCg>cTg	p.P147L	CENPT_ENST00000219172.3_Intron|CENPT_ENST00000440851.2_Intron|CENPT_ENST00000562947.1_Intron|CENPT_ENST00000564817.1_Intron|CENPT_ENST00000562787.1_Intron			Q96BT3	CENPT_HUMAN	centromere protein T	0					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CTGTCATAGCGGGGAGAGCTT	0.562000													4	68					0	0	1	0	0
OR7A5	26659	broad.mit.edu	37	19	14938176	14938176	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:14938176C>A	ENST00000322301.3	-	2	965	c.878G>T	c.(877-879)aGg>aTg	p.R293M	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.R293M			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293M(2)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GTCTTTATTCCTCAGACTATA	0.468000													62	120					1.12357e-39	1.32062e-39	1	1	0
CLCA2	9635	broad.mit.edu	37	1	86920813	86920813	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:86920813A>G	ENST00000370565.4	+	14	2597	c.2435A>G	c.(2434-2436)cAa>cGa	p.Q812R		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	812					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CAGAATATCCAAGATGACTTT	0.318000													4	72					0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19553224	19553224	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:19553224G>C	ENST00000396212.2	+	7	2501	c.2065G>C	c.(2065-2067)Gag>Cag	p.E689Q	CCP110_ENST00000381396.5_Missense_Mutation_p.E689Q|CCP110_ENST00000396208.2_Missense_Mutation_p.E689Q	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	689					centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	p.E689Q(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						AGAAGAGCAGGAGAAAATGTT	0.348000													15	91					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48563896	48563896	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:48563896G>A	ENST00000435803.1	+	54	14128	c.14104G>A	c.(14104-14106)Gaa>Aaa	p.E4702K	ABCA13_ENST00000544596.1_Missense_Mutation_p.E432K	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4702					transport	integral to membrane	ATP binding|ATPase activity	p.E4647K(2)|p.E4702K(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TACAGATGTTGAAAAAGAGGA	0.383000													16	82					0	0	1	0	0
TTC8	123016	broad.mit.edu	37	14	89338775	89338775	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr14:89338775G>A	ENST00000338104.6	+	13	1426	c.1374G>A	c.(1372-1374)atG>atA	p.M458I	TTC8_ENST00000345383.5_Missense_Mutation_p.M432I|TTC8_ENST00000536576.1_Missense_Mutation_p.M203I|TTC8_ENST00000346301.4_Missense_Mutation_p.M402I|TTC8_ENST00000354441.6_Missense_Mutation_p.M177I|TTC8_ENST00000358622.5_Missense_Mutation_p.M244I|TTC8_ENST00000380656.2_Missense_Mutation_p.M442I			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	468					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	p.M442I(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGCTGGAGATGCGGAAGGGCC	0.532000													87	264					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248403046	248403046	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:248403046G>C	ENST00000306687.1	+	1	816	c.816G>C	c.(814-816)aaG>aaC	p.K272N		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K272N(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACCAGGACAAGATGGTGTCGG	0.502000													32	238					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82763878	82763878	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:82763878C>T	ENST00000423517.2	-	3	3325	c.2988G>A	c.(2986-2988)gtG>gtA	p.V996V	PCLO_ENST00000333891.8_Silent_p.V996V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	942					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.V996V(4)|p.V942V(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTCCTTTTTCACAGGTATAC	0.468000													13	41					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													4	33					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180044335	180044335	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:180044335G>A	ENST00000367607.3	+	28	6164	c.5746G>A	c.(5746-5748)Gac>Aac	p.D1916N		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1916						centrosome|nucleus|spindle		p.D1916N(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGAACTGGAGGACCAGAGAAC	0.333000													5	33					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33600726	33600726	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:33600726G>T	ENST00000170564.2	+	11	1703	c.1389G>T	c.(1387-1389)agG>agT	p.R463S		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	463						catalytic step 2 spliceosome	nucleic acid binding	p.R463S(2)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TCAAGGCCAGGAGTCTGGCCC	0.542000													20	119					1.28384e-07	1.36165e-07	1	1	0
TYRO3	7301	broad.mit.edu	37	15	41865997	41865997	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr15:41865997G>C	ENST00000263798.3	+	18	2490	c.2266G>C	c.(2266-2268)Gag>Cag	p.E756Q	TYRO3_ENST00000559066.1_Missense_Mutation_p.E711Q	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	756	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.E756Q(2)|p.E748Q(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAGCCTCCGGAGTGTATGGA	0.552000													16	23					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813279	106813279	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr8:106813279G>A	ENST00000407775.2	+	8	1219	c.969G>A	c.(967-969)gtG>gtA	p.V323V	ZFPM2_ENST00000378472.4_Silent_p.V54V|ZFPM2_ENST00000520492.1_Silent_p.V191V|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.V191V|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	323					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.V323V(2)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTCTAGGAGTGAAAATGGAAG	0.418000													44	179					0	0	1	0	0
TRA2A	29896	broad.mit.edu	37	7	23571409	23571409	+	Splice_Site	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:23571409C>G	ENST00000297071.4	-	1	251	c.36_splice	c.e1+1	p.R12_splice	TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000538367.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	12					nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding	p.R12T(2)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TGTACTCACTCTGCCCTCGAA	0.612000													14	39					0	0	1	0	0
FAM211B	388886	broad.mit.edu	37	22	24985872	24985872	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr22:24985872C>G	ENST00000318753.8	-	2	246	c.223G>C	c.(223-225)Gat>Cat	p.D75H	GGT1_ENST00000248923.4_Intron|FAM211B_ENST00000495297.1_5'UTR	NM_207644.2	NP_997527.2	Q2VPJ9	LRC6X_HUMAN	family with sequence similarity 211, member B	75								p.D75H(1)									AAGGCCACATCTCTGTAGAGG	0.607000													2	8					0	0	1	0	0
DDX27	55661	broad.mit.edu	37	20	47839551	47839551	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr20:47839551G>C	ENST00000371764.4	+	3	400	c.391G>C	c.(391-393)Gag>Cag	p.E131Q	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	131	Asp/Glu/Lys-rich.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.E131Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AAGGAAAACAGAGGTGAGAAG	0.423000													7	34					0	0	1	0	0
DNAJC1	64215	broad.mit.edu	37	10	22048380	22048380	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr10:22048380C>T	ENST00000376980.3	-	11	1605	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N		NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	439					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	p.D439N(2)		cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				GGCCGGGCATCAGTGGCCCCG	0.662000													5	36					0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107416977	107416977	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:107416977C>T	ENST00000340010.5	-	15	1781	c.1597G>A	c.(1597-1599)Gaa>Aaa	p.E533K	SLC26A3_ENST00000422236.2_Missense_Mutation_p.E498K	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	533	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.E533K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTCACTCCTTCTGGCTCATAC	0.378000													11	195					0	0	1	0	0
ULBP3	79465	broad.mit.edu	37	6	150385794	150385794	+	Silent	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:150385794G>C	ENST00000367339.1	-	4	712	c.684C>G	c.(682-684)ctC>ctG	p.L228L	ULBP3_ENST00000438272.2_Silent_p.L228L			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	228					antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity	p.L228L(2)		central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		TCCAGGGACTGAGGGTGGTGG	0.527000													4	36					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55546020	55546020	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:55546020C>T	ENST00000436346.1	-	19	4124	c.3283G>A	c.(3283-3285)Gaa>Aaa	p.E1095K	CCDC88A_ENST00000263630.8_Missense_Mutation_p.E1095K|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E1094K|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E1094K	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1095					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	p.E1094K(2)|p.E1095K(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTATTCTGTTCTTGTAATGAC	0.368000													42	136					0	0	1	0	0
C11orf70	85016	broad.mit.edu	37	11	101953881	101953881	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:101953881G>A	ENST00000434758.2	+	7	783	c.755G>A	c.(754-756)cGt>cAt	p.R252H		NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	252								p.R214H(2)		breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		CCTATCAGGCGTCACCTTCAT	0.343000													67	190					0	0	1	0	0
UVRAG	7405	broad.mit.edu	37	11	75852254	75852254	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:75852254G>A	ENST00000356136.3	+	15	2138	c.1897G>A	c.(1897-1899)Gaa>Aaa	p.E633K	UVRAG_ENST00000528420.1_Missense_Mutation_p.E532K|UVRAG_ENST00000532130.1_Missense_Mutation_p.E261K|UVRAG_ENST00000538870.1_Missense_Mutation_p.E189K|UVRAG_ENST00000531818.1_Missense_Mutation_p.E261K|UVRAG_ENST00000539288.1_Missense_Mutation_p.E261K|UVRAG_ENST00000533454.1_Missense_Mutation_p.E261K	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	633					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	p.E633K(2)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GGAGCAAGCAGAAGAAATCAT	0.567000													10	45					0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30418929	30418929	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr20:30418929T>C	ENST00000375994.2	+	9	1682	c.1409T>C	c.(1408-1410)gTg>gCg	p.V470A	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.V470A			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	470	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	p.V470A(2)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGTATGGGGGTGATCACCTAC	0.567000													24	92					0	0	1	0	0
TRBC2	28638	broad.mit.edu	37	7	142498916	142498916	+	RNA	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:142498916G>A	ENST00000466254.1	+	0	192																											GCCCCTCAAGGAGCAGCCCGC	0.642000													32	151					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135032354	135032354	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr10:135032354C>G	ENST00000304613.3	+	27	4718	c.4697C>G	c.(4696-4698)tCc>tGc	p.S1566C	KNDC1_ENST00000368572.2_Missense_Mutation_p.S1568C			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1566	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			p.S1566C(2)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AACTTGCTGTCCAAATTTTTG	0.463000													19	51					0	0	1	0	0
THAP7-AS1	439931	broad.mit.edu	37	22	21363078	21363078	+	RNA	SNP	A	A	G	rs73164845	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr22:21363078A>G	ENST00000452284.1	+	0	745				THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA	NR_027051.1																						CTTAAATCCAATCGGACACCA	0.532000													3	11					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138832284	138832284	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chrX:138832284T>A	ENST00000370557.1	-	24	3746	c.2719A>T	c.(2719-2721)Atg>Ttg	p.M907L	ATP11C_ENST00000370543.1_Missense_Mutation_p.M913L|ATP11C_ENST00000361648.2_Missense_Mutation_p.M913L|ATP11C_ENST00000359686.2_Missense_Mutation_p.M913L|ATP11C_ENST00000327569.3_Missense_Mutation_p.M913L|ATP11C_ENST00000460773.1_5'UTR			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	913					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.M913L(4)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ATATTGTACATTGTAAGGTAA	0.383000													99	170					0	0	1	0	0
PEX14	5195	broad.mit.edu	37	1	10555367	10555367	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:10555367C>G	ENST00000356607.4	+	2	153	c.73C>G	c.(73-75)Cga>Gga	p.R25G	PEX14_ENST00000538836.1_5'UTR	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	25					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity	p.R25G(2)		breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		TGTGCTGCCTCGAGAGCCGCT	0.433000											OREG0013090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	64					0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56737273	56737273	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr4:56737273A>G	ENST00000381295.2	+	7	1186	c.838A>G	c.(838-840)Atg>Gtg	p.M280V	EXOC1_ENST00000349598.6_Missense_Mutation_p.M280V|EXOC1_ENST00000346134.7_Missense_Mutation_p.M280V	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	280					exocytosis|protein transport	exocyst	protein binding	p.M280V(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					CTAGAACCACATGGACTTGGC	0.433000													10	113					0	0	1	0	0
LYN	4067	broad.mit.edu	37	8	56866476	56866476	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr8:56866476G>C	ENST00000520220.2	+	8	934	c.660G>C	c.(658-660)gaG>gaC	p.E220D	LYN_ENST00000519728.1_Missense_Mutation_p.E241D	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	241	SH2.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	p.E241D(2)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			ATGCCTGGGAGATCCCCCGGG	0.527000													12	79					0	0	1	0	0
TAAR9	134860	broad.mit.edu	37	6	132859813	132859813	+	RNA	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:132859813G>T	ENST00000434551.1	+	0	385					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TATCTCTGTTGATAGATACAT	0.383000													13	117					0.00185496	0.0019033	1	1	0
KRTAP23-1	337963	broad.mit.edu	37	21	31720897	31720897	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr21:31720897A>C	ENST00000334160.4	-	1	27	c.28T>G	c.(28-30)Ttc>Gtc	p.F10V		NM_181624.1	NP_853655.1	A1A580	KR231_HUMAN	keratin associated protein 23-1	10						intermediate filament		p.F10V(2)		large_intestine(1)|lung(4)|prostate(1)	6						TGGGAGGAGAAGTTTCCACAG	0.537000													73	596					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123870875	123870875	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chrX:123870875G>T	ENST00000422452.2	-	4	771	c.708C>A	c.(706-708)acC>acA	p.T236T	TENM1_ENST00000371130.3_Silent_p.T236T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.T238T(2)									CCTGCGTGCTGGTTGGGGGAG	0.557000													44	258					6.27289e-28	7.23795e-28	1	1	0
KIN	22944	broad.mit.edu	37	10	7820880	7820880	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr10:7820880T>A	ENST00000379562.3	-	5	526	c.479A>T	c.(478-480)aAg>aTg	p.K160M	KIN_ENST00000535925.1_Missense_Mutation_p.K160M|KIN_ENST00000543003.1_Missense_Mutation_p.K54M			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	160					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding	p.K160M(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AAGGTCCTGCTTTTTCTTTTT	0.453000													30	235					0	0	1	0	0
BCAR1	9564	broad.mit.edu	37	16	75263784	75263784	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:75263784G>A	ENST00000546196.1	-	7	3803	c.2151C>T	c.(2149-2151)ttC>ttT	p.F717F	BCAR1_ENST00000418647.3_Silent_p.F792F|BCAR1_ENST00000393420.6_Silent_p.F764F|BCAR1_ENST00000420641.3_Silent_p.F764F|BCAR1_ENST00000538440.2_Silent_p.F746F|BCAR1_ENST00000162330.5_Silent_p.F746F|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000393422.2_Silent_p.F764F|BCAR1_ENST00000542031.2_Silent_p.F744F|BCAR1_ENST00000535626.2_Silent_p.F598F			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	746					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	p.F746F(2)|p.F764F(2)|p.F792F(2)		breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCTCCAGGTAGAAGAGCAGCA	0.672000													6	11					0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124503575	124503575	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:124503575G>A	ENST00000357628.3	-	8	973	c.375C>T	c.(373-375)ttC>ttT	p.F125F	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	125					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.F125F(4)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CCTCAGTAGTGAAGTTAAAAT	0.443000													112	280					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100949976	100949976	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:100949976C>T	ENST00000193391.7	-	16	3434	c.3247G>A	c.(3247-3249)Gag>Aag	p.E1083K		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1083	EGF-like 2.|Hyaluronan-binding motif involved in chondroitin sulfate C-binding (By similarity).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	p.E1083K(2)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CACCAGTTCTCACCCACCCGG	0.507000													74	221					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245530604	245530604	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:245530604C>T	ENST00000407071.2	+	3	1374	c.934C>T	c.(934-936)Cac>Tac	p.H312Y	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	312					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.H312Y(4)|p.H112Y(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CATCCAGGCTCACCAGTACCT	0.592000													8	16					0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56217256	56217256	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr12:56217256C>G	ENST00000357606.3	-	4	1733	c.1444G>C	c.(1444-1446)Gag>Cag	p.E482Q	RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.G111A|DNAJC14_ENST00000317269.3_Missense_Mutation_p.E482Q|DNAJC14_ENST00000317287.5_Missense_Mutation_p.E482Q			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	482	J.				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	p.E482Q(2)		breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TTGAAGGCCTCCTCAGCCCGG	0.438000													20	87					0	0	1	0	0
KLHL3	26249	broad.mit.edu	37	5	136963999	136963999	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:136963999G>T	ENST00000508657.1	-	13	2196	c.1482C>A	c.(1480-1482)tgC>tgA	p.C494*	KLHL3_ENST00000541417.1_3'UTR|KLHL3_ENST00000506491.1_Nonsense_Mutation_p.C444*|KLHL3_ENST00000309755.4_Nonsense_Mutation_p.C526*|KLHL3_ENST00000506873.1_5'UTR	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	526						cytoplasm|cytoskeleton	actin binding|structural molecule activity	p.C526*(2)|p.C526C(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CGTTGCGCCGGCACATGTTCA	0.537000													77	338					3.62344e-47	4.29092e-47	1	1	0
SLC35B2	347734	broad.mit.edu	37	6	44222521	44222521	+	Silent	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:44222521G>C	ENST00000393812.3	-	4	1364	c.1221C>G	c.(1219-1221)ctC>ctG	p.L407L	SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000537814.1_Silent_p.L274L|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000538577.1_Silent_p.L314L	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	407					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	p.L407L(2)		breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CGTAGACTCTGAGCAGGAGGG	0.602000													12	75					0	0	1	0	0
CACNG4	27092	broad.mit.edu	37	17	65027117	65027117	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr17:65027117G>T	ENST00000262138.3	+	4	983	c.981G>T	c.(979-981)gtG>gtT	p.V327V		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	327					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	p.V327V(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CGACCCCTGTGTGAGCCGCCT	0.572000													61	245					8.50452e-49	1.01092e-48	1	1	0
NOP16	51491	broad.mit.edu	37	5	175812222	175812222	+	Splice_Site	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:175812222C>T	ENST00000389158.5	-	4	828	c.393_splice	c.e4+1	p.K131_splice	NOP16_ENST00000509257.1_Silent_p.K131K|NOP16_ENST00000510123.1_Splice_Site_p.K131_splice|NOP16_ENST00000507413.1_Intron			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	131						nucleolus		p.K106K(2)|p.K131K(2)		central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						AGCCGCTCACCTTATAGTCCT	0.562000													6	32					0	0	1	0	0
FOLR3	2352	broad.mit.edu	37	11	71850176	71850176	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:71850176G>T	ENST00000445078.2	+	3	531	c.460G>T	c.(460-462)Ggg>Tgg	p.G154W	FOLR3_ENST00000456237.1_Missense_Mutation_p.G156W|FOLR3_ENST00000442948.2_Missense_Mutation_p.G113W			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	112					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	p.G156W(1)		large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	ACCCAACCTGGGGCCCTGGAT	0.572000													5	45					1.06961e-07	1.13827e-07	1	1	0
PPP2R2A	5520	broad.mit.edu	37	8	26223870	26223870	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr8:26223870G>A	ENST00000380737.3	+	9	1341	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.E348K	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha									p.E338K(2)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TTCACTGTATGAAAATGACTG	0.308000													12	69					0	0	1	0	0
NUMB	8650	broad.mit.edu	37	14	73749182	73749182	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr14:73749182G>C	ENST00000556772.1	-	5	2836	c.549C>G	c.(547-549)atC>atG	p.I183M	NUMB_ENST00000359560.3_Missense_Mutation_p.I316M|NUMB_ENST00000560335.1_Missense_Mutation_p.I229M|NUMB_ENST00000356296.4_Missense_Mutation_p.I327M|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000454166.4_Missense_Mutation_p.I229M|NUMB_ENST00000555394.1_Missense_Mutation_p.I327M|NUMB_ENST00000555238.1_Missense_Mutation_p.I327M|NUMB_ENST00000355058.3_Missense_Mutation_p.I327M|NUMB_ENST00000554546.1_Missense_Mutation_p.I316M|NUMB_ENST00000557597.1_Missense_Mutation_p.I316M|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000535282.1_Missense_Mutation_p.I316M|NUMB_ENST00000555738.2_Missense_Mutation_p.I218M			P49757	NUMB_HUMAN	numb homolog (Drosophila)	327	PID.				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane		p.I327M(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		ACAGGGAGCTGATGCTCTCTG	0.498000													22	59					0	0	1	0	0
HYI	81888	broad.mit.edu	37	1	43917151	43917151	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:43917151G>A	ENST00000372425.4	-	7	885	c.690C>T	c.(688-690)ttC>ttT	p.F230F	SZT2_ENST00000562955.1_3'UTR|SZT2_ENST00000372442.1_3'UTR|HYI_ENST00000486909.1_Silent_p.F230F|HYI_ENST00000583037.1_Silent_p.F157F|HYI_ENST00000372426.1_Silent_p.F182F|HYI_ENST00000372432.1_Silent_p.F230F|HYI_ENST00000372434.1_Silent_p.F255F			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	230							hydroxypyruvate isomerase activity	p.F230F(2)|p.F157F(2)		large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACAGATAGGGGAAATTCAGCT	0.607000													3	23					0	0	1	0	0
N4BP1	9683	broad.mit.edu	37	16	48594762	48594762	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:48594762C>T	ENST00000262384.3	-	2	2028	c.1792G>A	c.(1792-1794)Gat>Aat	p.D598N	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	598					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		p.D598N(2)|p.D645N(2)		breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TTTAGAGTATCTCGAAACCTT	0.423000													31	180					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	G	rs121912660		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr17:7577099C>G	ENST00000420246.2	-	8	971	c.839G>C	c.(838-840)aGa>aCa	p.R280T	TP53_ENST00000455263.2_Missense_Mutation_p.R280T|TP53_ENST00000445888.2_Missense_Mutation_p.R280T|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R280T|TP53_ENST00000359597.4_Missense_Mutation_p.R280T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (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.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GCGCCGGTCTCTCCCAGGACA	0.542000		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)			18	38					0	0	1	0	0
MUT	4594	broad.mit.edu	37	6	49425625	49425625	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:49425625G>C	ENST00000274813.3	-	3	659	c.532C>G	c.(532-534)Cct>Gct	p.P178A		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	178					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	p.P178A(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTTCTAAAGGAATTCCATCA	0.383000													20	102					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34145245	34145245	+	Splice_Site	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr15:34145245G>T	ENST00000389232.4	+	95	13698		c.e95-1		RYR3_ENST00000559917.1_Splice_Site|RYR3_ENST00000415757.3_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.?(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGTTTTTCAGATCTTTTCCT	0.383000													9	35					2.52707e-12	2.75442e-12	1	1	0
FSIP2	401024	broad.mit.edu	37	2	186670938	186670938	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:186670938G>C	ENST00000343098.5	+	17	17172	c.17172G>C	c.(17170-17172)aaG>aaC	p.K5724N	FSIP2_ENST00000424728.1_Missense_Mutation_p.K5635N	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.K333N(4)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGAAGTCCAAGAGAAATCTAG	0.388000													9	59					0	0	1	0	0
EXOG	9941	broad.mit.edu	37	3	38548401	38548401	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:38548401C>T	ENST00000287675.5	+	5	683	c.587C>T	c.(586-588)tCt>tTt	p.S196F	EXOG_ENST00000358249.2_Missense_Mutation_p.S56F|EXOG_ENST00000422077.2_Missense_Mutation_p.S146F	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	196						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	p.S196F(2)		central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TGGGTGGTATCTGGGCCTTTG	0.353000													21	70					0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60505791	60505791	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:60505791C>G	ENST00000371201.3	-	5	652	c.545G>C	c.(544-546)aGa>aCa	p.R182T	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	182							calcium ion binding	p.R182T(2)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAGTTCTCTTCTGACCAGGGC	0.423000													38	178					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2876054	2876054	+	Silent	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr8:2876054A>G	ENST00000520002.1	-	53	8532	c.7977T>C	c.(7975-7977)caT>caC	p.H2659H	CSMD1_ENST00000537824.1_Silent_p.H2658H|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602557.1_Silent_p.H2659H|CSMD1_ENST00000542608.1_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2659	Sushi 17.					integral to membrane		p.H2387H(2)|p.H2658H(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTCTCTGACATGAGACCCCA	0.483000													90	402					0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62761244	62761244	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:62761244G>C	ENST00000336232.2	-	9	1458	c.1323C>G	c.(1321-1323)atC>atG	p.I441M	SLC22A8_ENST00000311438.8_Missense_Mutation_p.I441M|SLC22A8_ENST00000535878.1_Missense_Mutation_p.I318M|SLC22A8_ENST00000545207.1_Missense_Mutation_p.I350M|SLC22A8_ENST00000430500.2_Missense_Mutation_p.I441M	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	441					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	p.I441M(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GCACCTACCTGATGACTGTGG	0.562000													15	165					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124323233	124323233	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr12:124323233C>G	ENST00000409039.3	+	28	4804	c.4779C>G	c.(4777-4779)atC>atG	p.I1593M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1593	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I185M(2)|p.I1593M(2)		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)		AGCACATGATCAAGGTCAGCC	0.557000													131	309					0	0	1	0	0
FLCN	201163	broad.mit.edu	37	17	17122443	17122443	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr17:17122443C>A	ENST00000285071.4	-	9	1406	c.952G>T	c.(952-954)Gaa>Taa	p.E318*	RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	318					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	p.E318*(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TCCCGCCCTTCTGTACTCTCT	0.587000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				12	41					0.000308642	0.000318761	1	1	0
ADD3	120	broad.mit.edu	37	10	111878416	111878416	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr10:111878416C>T	ENST00000277900.8	+	6	1004	c.639C>T	c.(637-639)ttC>ttT	p.F213F	ADD3_ENST00000360162.3_Silent_p.F213F|ADD3_ENST00000356080.4_Silent_p.F213F	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	213						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	p.F213F(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ATACAGGATTCAGTCCCCATG	0.393000													39	128					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149514487	149514487	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:149514487C>G	ENST00000261799.4	-	4	926	c.457G>C	c.(457-459)Gac>Cac	p.D153H		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	153	Ig-like C2-type 2.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	p.D153H(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGCTGTGGGTCTGTTACTCGG	0.522000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								36	89					0	0	1	0	0
MANBA	4126	broad.mit.edu	37	4	103590175	103590175	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr4:103590175A>T	ENST00000226578.4	-	10	1361	c.1262T>A	c.(1261-1263)cTt>cAt	p.L421H	MANBA_ENST00000505239.1_Missense_Mutation_p.L364H	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	421					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding	p.L421H(1)		cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		AGTTGGATAAAGGGCACAGGC	0.373000													8	80					0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50891429	50891429	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr15:50891429C>A	ENST00000313478.7	-	22	3334	c.3053G>T	c.(3052-3054)aGa>aTa	p.R1018I	TRPM7_ENST00000560955.1_Missense_Mutation_p.R1018I	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1018					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	p.R1018I(2)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TATTGCCTTTCTGGGAACACC	0.353000													28	83					1.06801e-11	1.16008e-11	1	1	0
DMPK	1760	broad.mit.edu	37	19	46283154	46283154	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:46283154C>A	ENST00000600757.1	-	1	851	c.164G>T	c.(163-165)cGg>cTg	p.R55L	DMPK_ENST00000458663.2_Intron|DMPK_ENST00000447742.2_Intron|DMPK_ENST00000354227.5_Intron|DMPK_ENST00000343373.4_Missense_Mutation_p.R55L|DMPK_ENST00000291270.4_Intron|AC011530.4_ENST00000593999.1_Intron			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	55					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.R55L(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GGAAAAGAACCGAGGGTCACC	0.602000													16	61					5.03518e-11	6.01582e-11	0.007413	1	0
BCHE	590	broad.mit.edu	37	3	165548362	165548362	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:165548362G>A	ENST00000264381.3	-	2	626	c.460C>T	c.(460-462)Cat>Tat	p.H154Y	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	154					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.H154Y(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TCATAAACATGTAAAGATGAT	0.383000													18	79					0	0	0.008871	0	0
TYMP	1890	broad.mit.edu	37	22	50967929	50967929	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr22:50967929C>A	ENST00000252029.3	-	2	372	c.210G>T	c.(208-210)caG>caT	p.Q70H	TYMP_ENST00000395681.1_Missense_Mutation_p.Q70H|TYMP_ENST00000395678.3_Missense_Mutation_p.Q70H|TYMP_ENST00000395680.1_Missense_Mutation_p.Q70H	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	70					angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity	p.Q70H(1)		large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	ACGCACCGATCTGTGCGCCCT	0.682000													8	100					0.000442599	0.000483525	0.006214	1	0
DPY19L4	286148	broad.mit.edu	37	8	95738658	95738658	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr8:95738658G>A	ENST00000414645.2	+	2	215	c.116G>A	c.(115-117)aGa>aAa	p.R39K		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	39						integral to membrane		p.R39K(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					ATTCCTGAAAGAGCTCCAAAA	0.333000													8	61					0	0	0.003080	0	0
PIDD	55367	broad.mit.edu	37	11	800571	800571	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:800571G>A	ENST00000347755.5	-	12	2154	c.2013C>T	c.(2011-2013)gcC>gcT	p.A671A	PIDD_ENST00000411829.2_Silent_p.A671A	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	671					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	p.A671A(1)									CGCGCTCGAAGGCCGCAAAGA	0.677000													8	66					0	0	0.006214	0	0
SAMD15	161394	broad.mit.edu	37	14	77845256	77845256	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr14:77845256G>C	ENST00000216471.4	+	1	1781	c.1495G>C	c.(1495-1497)Gag>Cag	p.E499Q	SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	499								p.E499Q(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGATCCCTCAGAGTCTCAGAC	0.408000													21	82					0	0	0.002299	0	0
PLP1	5354	broad.mit.edu	37	X	103044264	103044264	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chrX:103044264C>T	ENST00000418604.1	+	7	979	c.699C>T	c.(697-699)ttC>ttT	p.F233F	PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000303958.2_Silent_p.F233F|PLP1_ENST00000361621.2_Silent_p.F198F	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	233					cell death|synaptic transmission	integral to membrane		p.F233F(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						TCCTGCAGTTCCAAATGACCT	0.413000													34	56					0	0	0.002836	0	0
TYRO3	7301	broad.mit.edu	37	15	41865997	41865997	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr15:41865997G>C	ENST00000263798.3	+	18	2490	c.2266G>C	c.(2266-2268)Gag>Cag	p.E756Q	TYRO3_ENST00000559066.1_Missense_Mutation_p.E711Q	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	756	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.E756Q(2)|p.E748Q(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAGCCTCCGGAGTGTATGGA	0.552000													31	101					0	0	0.002096	0	0
SMAD4	4089	broad.mit.edu	37	18	48575671	48575671	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr18:48575671C>G	ENST00000342988.3	+	4	969	c.431C>G	c.(430-432)tCa>tGa	p.S144*	SMAD4_ENST00000452201.2_Nonsense_Mutation_p.S144*|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.S144*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.S144*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	144					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.S144*(5)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TAAGATCTCTCAGGATTAACA	0.294000													12	45					0	0	0.002450	0	0
TLK2	11011	broad.mit.edu	37	17	60613585	60613585	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr17:60613585A>G	ENST00000326270.9	+	7	686	c.418A>G	c.(418-420)Acg>Gcg	p.T140A	TLK2_ENST00000542523.1_Missense_Mutation_p.T108A|TLK2_ENST00000346027.5_Missense_Mutation_p.T140A|TLK2_ENST00000343388.7_Missense_Mutation_p.T108A|TLK2_ENST00000582809.1_5'UTR			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	140					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.T140A(4)|p.T139A(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AAAGGAGGCAACGGAGGAGCA	0.512000													18	76					0	0	0.006122	0	0
TRHDE	29953	broad.mit.edu	37	12	72893294	72893294	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr12:72893294T>C	ENST00000261180.4	+	6	1562	c.1466T>C	c.(1465-1467)cTg>cCg	p.L489P		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	489					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.L489P(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CAGAGGTTTCTGACCGATGTT	0.448000													15	75					0	0	0.002450	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													5	123					0	0	0.000602	0	0
DNAJB11	51726	broad.mit.edu	37	3	186301672	186301672	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:186301672G>C	ENST00000439351.1	+	9	1688	c.759G>C	c.(757-759)agG>agC	p.R253S	DNAJB11_ENST00000265028.3_Missense_Mutation_p.R253S			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	253					protein folding	endoplasmic reticulum lumen	heat shock protein binding	p.R253S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TATTTGAAAGGAGAGGAGATG	0.338000													4	112					0	0	0.009096	0	0
CPSF3L	54973	broad.mit.edu	37	1	1250237	1250237	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:1250237C>G	ENST00000540437.1	-	9	1142	c.687G>C	c.(685-687)aaG>aaC	p.K229N	CPSF3L_ENST00000421495.2_5'UTR|CPSF3L_ENST00000545578.1_Missense_Mutation_p.K194N|CPSF3L_ENST00000450926.2_Missense_Mutation_p.K201N|CPSF3L_ENST00000411962.1_Missense_Mutation_p.K125N|CPSF3L_ENST00000419704.1_Missense_Mutation_p.K122N|CPSF3L_ENST00000435064.1_Missense_Mutation_p.K223N|CPSF3L_ENST00000462432.1_5'UTR	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	223						Golgi apparatus|nucleus	hydrolase activity	p.K223N(1)		endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		CGTGGACTTTCTTCAGGAAGT	0.632000													17	92					0	0	0.006122	0	0
FRRS1	391059	broad.mit.edu	37	1	100212973	100212973	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:100212973C>T	ENST00000414213.1	-	4	811	c.210G>A	c.(208-210)ggG>ggA	p.G70G	FRRS1_ENST00000287474.5_Silent_p.G70G			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	70	Reelin.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		TAAATGGATGCCCTGACAAAG	0.383000													5	240					0	0	0.000602	0	0
LRP1	4035	broad.mit.edu	37	12	57567684	57567684	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr12:57567684C>T	ENST00000243077.3	+	22	3934	c.3468C>T	c.(3466-3468)acC>acT	p.T1156T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1156	LDL-receptor class A 10.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.T1156T(2)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCAACAACACCTCAGTCTGCC	0.622000													39	114					0	0	0.006999	0	0
CACNA1B	774	broad.mit.edu	37	9	140870387	140870387	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr9:140870387C>G	ENST00000371372.1	+	12	1717	c.1572C>G	c.(1570-1572)ctC>ctG	p.L524L	CACNA1B_ENST00000371355.4_Silent_p.L525L|CACNA1B_ENST00000371357.1_Silent_p.L525L|CACNA1B_ENST00000371363.1_Silent_p.L524L|CACNA1B_ENST00000277551.2_Silent_p.L524L|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	524					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.L524L(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCCTGGGTCTCTTCCTCACAG	0.567000													8	28					0	0	0.004482	0	0
CNTLN	54875	broad.mit.edu	37	9	17298312	17298312	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr9:17298312G>T	ENST00000380647.3	+	7	1192	c.1108G>T	c.(1108-1110)Gaa>Taa	p.E370*	CNTLN_ENST00000262360.5_Nonsense_Mutation_p.E370*|CNTLN_ENST00000425824.1_Nonsense_Mutation_p.E370*|CNTLN_ENST00000380641.4_Nonsense_Mutation_p.E370*			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	370						centriole|membrane	two-component sensor activity	p.E370*(2)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GAGAAATCAGGAAGATGTTCA	0.343000													14	60					2.32078e-09	2.76243e-09	0.003163	1	0
SLCO5A1	81796	broad.mit.edu	37	8	70617351	70617351	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr8:70617351C>A	ENST00000260126.3	-	6	2243	c.1537G>T	c.(1537-1539)Gtg>Ttg	p.V513L	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.V458L|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.V513L	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	513						integral to membrane|plasma membrane	transporter activity	p.V513L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AGTAAAGACACACCACTGCAG	0.398000													19	146					7.07596e-05	7.81049e-05	0.006122	1	0
CACNA1B	774	broad.mit.edu	37	9	140919511	140919511	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr9:140919511C>T	ENST00000277549.5	+	20	3318	c.749C>T	c.(748-750)gCa>gTa	p.A250V	CACNA1B_ENST00000371355.4_Missense_Mutation_p.A1059V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A1059V|CACNA1B_ENST00000371367.5_Missense_Mutation_p.A42V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A1058V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A1058V|CACNA1B_ENST00000371372.1_Missense_Mutation_p.A1058V|CACNA1B_ENST00000545473.1_Missense_Mutation_p.A42V			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1058					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.A1058V(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCAGAGGATGCAGACAATCAG	0.592000													7	37					0	0	0.004482	0	0
TBCC	6903	broad.mit.edu	37	6	42713509	42713509	+	Silent	SNP	T	T	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:42713509T>G	ENST00000244625.2	-	2	866	c.303A>C	c.(301-303)tcA>tcC	p.S101S	TBCC_ENST00000372876.1_Silent_p.S101S			Q15814	TBCC_HUMAN	tubulin folding cofactor C	101					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			GGAAAAAAACTGAGTCGTTGA	0.682000													5	107					0	0	0.001984	0	0
ETNK1	55500	broad.mit.edu	37	12	22778145	22778145	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr12:22778145C>G	ENST00000266517.4	+	1	137	c.48C>G	c.(46-48)ctC>ctG	p.L16L	ETNK1_ENST00000335148.3_Silent_p.L16L	NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	16					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity	p.L16L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGAATTTTCTCCGAGAGCGGG	0.721000													4	45					0	0	0.009096	0	0
PDPR	55066	broad.mit.edu	37	16	70190452	70190452	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:70190452C>T	ENST00000288050.4	+	19	3267	c.2310C>T	c.(2308-2310)ttC>ttT	p.F770F	PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000398122.3_Silent_p.F670F|PDPR_ENST00000568530.1_Silent_p.F770F|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000542659.1_Silent_p.F115F|PDPR_ENST00000567046.1_Silent_p.F128F	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	770					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	p.F770F(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TCACCATGTTCATCCTGGACG	0.532000													61	262					0	0	0.003610	0	0
FIZ1	84922	broad.mit.edu	37	19	56104103	56104103	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:56104103C>T	ENST00000221665.3	-	3	1293	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding	p.E402K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GACGGGGGTTCCCCGGACGCC	0.736000													6	55					0	0	0.004482	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617486	77617486	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr8:77617486C>G	ENST00000521891.2	+	2	1611	c.1163C>G	c.(1162-1164)aCc>aGc	p.T388S	ZFHX4_ENST00000455469.2_Missense_Mutation_p.T388S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T388S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T388S|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	388						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T388S(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCGCGAGCACCTCGAGCTCA	0.532000										HNSCC(33;0.089)			6	53					0	0	0.004482	0	0
STAT2	6773	broad.mit.edu	37	12	56744927	56744927	+	Missense_Mutation	SNP	C	C	T	rs149666262		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr12:56744927C>T	ENST00000314128.4	-	10	1012	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	STAT2_ENST00000557235.1_Missense_Mutation_p.R326Q|STAT2_ENST00000418572.2_Missense_Mutation_p.R326Q			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	330					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.R330Q(3)		NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GATGAGGGGTCGATGGGGAGT	0.507000													33	169					0	0	0.006999	0	0
C2orf78	388960	broad.mit.edu	37	2	74042320	74042320	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:74042320G>C	ENST00000409561.1	+	3	1091	c.970G>C	c.(970-972)Gag>Cag	p.E324Q		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	324								p.E324Q(4)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCAGACACTTGAGAGTAACCC	0.463000													25	83					0	0	0.005443	0	0
AMER2	219287	broad.mit.edu	37	13	25743889	25743889	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr13:25743889G>T	ENST00000357816.2	-	3	1987	c.1512C>A	c.(1510-1512)ccC>ccA	p.P504P	AMER2_ENST00000381853.3_Silent_p.P504P|AMER2_ENST00000515384.1_Silent_p.P623P					APC membrane recruitment protein 2									p.P623P(2)|p.P504P(2)									GGTGCACCACGGGATGGCTAG	0.562000													54	202					1.19403e-26	1.51752e-26	0.003610	1	0
MED12	9968	broad.mit.edu	37	X	70351937	70351937	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chrX:70351937C>G	ENST00000333646.6	+	30	4333	c.4134C>G	c.(4132-4134)ctC>ctG	p.L1378L	MED12_ENST00000478889.1_Intron|MED12_ENST00000374080.3_Silent_p.L1378L|MED12_ENST00000374102.1_Silent_p.L1378L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1378					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.L1378L(4)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGAACTCCCTCTTGGAGAACA	0.512000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						17	39					0	0	0.010504	0	0
CD59	966	broad.mit.edu	37	11	33743968	33743968	+	Silent	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:33743968G>C	ENST00000395850.3	-	2	99	c.24C>G	c.(22-24)gtC>gtG	p.V8V	CD59_ENST00000351554.3_Silent_p.V8V|CD59_ENST00000528700.1_Silent_p.V8V|CD59_ENST00000426650.2_Silent_p.V8V|CD59_ENST00000437761.2_Silent_p.V8V|CD59_ENST00000415002.2_Silent_p.V8V|CD59_ENST00000534312.1_Silent_p.V8V|CD59_ENST00000445143.2_Silent_p.V8V|CD59_ENST00000527577.1_Silent_p.V8V|CD59_ENST00000533403.1_Silent_p.V8V	NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2	NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1	P13987	CD59_HUMAN	CD59 molecule, complement regulatory protein	8					blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction		p.V8V(2)		endometrium(1)|lung(2)	3						GCCCGAACAGGACAGACCCTC	0.537000													5	74					0	0	0.001168	0	0
PAPSS1	9061	broad.mit.edu	37	4	108552995	108552995	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr4:108552995G>A	ENST00000265174.4	-	11	1800	c.1528C>T	c.(1528-1530)Cgg>Tgg	p.R510W		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	510					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	p.R510W(1)		NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		GCAACCATCCGTGCTCTGCAA	0.418000													4	57					0	0	0.000602	0	0
ANAPC1	64682	broad.mit.edu	37	2	112604723	112604723	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:112604723G>C	ENST00000341068.3	-	16	2616	c.1844C>G	c.(1843-1845)tCt>tGt	p.S615C		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	615					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm		p.S615C(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						ACCTAACTCAGAGGTGGCAAT	0.328000													6	88					0	0	0.001984	0	0
AMN	81693	broad.mit.edu	37	14	103390271	103390271	+	Splice_Site	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr14:103390271G>A	ENST00000299155.5	+	3	195		c.e3-1			NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein						lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane		p.?(1)		kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTTCCTGCAGATGGTGTCAG	0.667000													46	153					0	0	0.003610	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090800	115090800	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr13:115090800G>A	ENST00000361283.1	+	3	1792	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	495	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	p.E495K(2)									TGTCTTCCCTGAGACCCGAAA	0.493000													114	380					0	0	0.003610	0	0
SULT1B1	27284	broad.mit.edu	37	4	70596267	70596267	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr4:70596267G>A	ENST00000310613.2	-	7	1027	c.730C>T	c.(730-732)Cta>Tta	p.L244L		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	244					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		p.L244L(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GTAGTTGGTAGATGTGTATAA	0.358000													15	128					0	0	0.004007	0	0
OR2W5	441932	broad.mit.edu	37	1	247655162	247655162	+	RNA	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:247655162C>A	ENST00000522351.1	+	0	793							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P245T(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCTCTTCTCACCTCACAGTGG	0.542000													44	253					2.40228e-13	2.91379e-13	0.003214	1	0
ULBP3	79465	broad.mit.edu	37	6	150385794	150385794	+	Silent	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:150385794G>C	ENST00000367339.1	-	4	712	c.684C>G	c.(682-684)ctC>ctG	p.L228L	ULBP3_ENST00000438272.2_Silent_p.L228L			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	228					antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity	p.L228L(2)		central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		TCCAGGGACTGAGGGTGGTGG	0.527000													15	126					0	0	0.004990	0	0
GPATCH1	55094	broad.mit.edu	37	19	33600726	33600726	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:33600726G>T	ENST00000170564.2	+	11	1703	c.1389G>T	c.(1387-1389)agG>agT	p.R463S		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	463						catalytic step 2 spliceosome	nucleic acid binding	p.R463S(2)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TCAAGGCCAGGAGTCTGGCCC	0.542000													26	247					1.04121e-07	1.20343e-07	0.005443	1	0
PKHD1	5314	broad.mit.edu	37	6	51889442	51889442	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:51889442G>A	ENST00000371117.3	-	32	5441	c.5166C>T	c.(5164-5166)atC>atT	p.I1722I	PKHD1_ENST00000340994.4_Silent_p.I1722I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1722	IPT/TIG 12; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.I1722I(4)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCCACCCTCTGATGCAGTCAT	0.532000													14	153					0	0	0.002450	0	0
GOLGA4	2803	broad.mit.edu	37	3	37396655	37396655	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:37396655G>T	ENST00000361924.2	+	22	7014	c.6640G>T	c.(6640-6642)Gaa>Taa	p.E2214*	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.E2229*	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2214	GRIP.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	p.L2213_E2214>F*(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAAAATTTTGGAAAGAGAAGA	0.383000													20	106					1.28384e-07	1.47318e-07	0.001882	1	0
RPL22	6146	broad.mit.edu	37	1	6253091	6253091	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:6253091G>C	ENST00000234875.4	-	3	179	c.141C>G	c.(139-141)atC>atG	p.I47M	RPL22_ENST00000497965.1_Missense_Mutation_p.I14M|RPL22_ENST00000484532.1_Missense_Mutation_p.I14M	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	47					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome	p.I47M(2)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CGTTCACTTTGATCCTTTCTT	0.438000			T	RUNX1	"""AML, CML"""								11	146					0	0	0.001368	0	0
RYR3	6263	broad.mit.edu	37	15	34145245	34145245	+	Splice_Site	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr15:34145245G>T	ENST00000389232.4	+	95	13698		c.e95-1		RYR3_ENST00000415757.3_Splice_Site|RYR3_ENST00000559917.1_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.?(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGTTTTTCAGATCTTTTCCT	0.383000													5	24					4.096e-09	4.85734e-09	0.001168	1	0
ZNF597	146434	broad.mit.edu	37	16	3490921	3490921	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:3490921A>G	ENST00000301744.4	-	3	281	c.46T>C	c.(46-48)Ttt>Ctt	p.F16L	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	16	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F16L(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						AGATCCTCAAAGAGTATTGGT	0.498000													16	110					0	0	0.003163	0	0
CACNA1F	778	broad.mit.edu	37	X	49086776	49086776	+	Silent	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chrX:49086776T>A	ENST00000376265.2	-	6	784	c.723A>T	c.(721-723)gcA>gcT	p.A241A	CACNA1F_ENST00000323022.5_Silent_p.A241A|CACNA1F_ENST00000376251.1_Silent_p.A176A	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	241					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.A241A(2)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GCACGAGCAGTGCAATGTGCA	0.557000													12	10					0	0	0.001855	0	0
GTF2I	2969	broad.mit.edu	37	7	74114631	74114631	+	Missense_Mutation	SNP	G	G	A	rs145729076		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:74114631G>A	ENST00000324896.4	+	5	817	c.428G>A	c.(427-429)cGa>cAa	p.R143Q	AC083884.8_ENST00000594967.1_RNA|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000416070.1_Missense_Mutation_p.R143Q|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000353920.4_Missense_Mutation_p.R143Q|GTF2I_ENST00000346152.4_Missense_Mutation_p.R143Q|GTF2I_ENST00000443166.1_Missense_Mutation_p.R143Q	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	143					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R143Q(2)		NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AAGATGCTGCGAGACCAGTCG	0.478000													15	298					0	0	0.006122	0	0
SP140	11262	broad.mit.edu	37	2	231109762	231109762	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:231109762G>A	ENST00000392045.3	+	6	745	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	SP140_ENST00000343805.6_Missense_Mutation_p.E211K|SP140_ENST00000420434.3_Missense_Mutation_p.E211K|SP140_ENST00000486687.2_Missense_Mutation_p.E211K|SP140_ENST00000350136.5_Missense_Mutation_p.E191K|SP140_ENST00000417495.3_Missense_Mutation_p.E211K	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	211					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E211K(2)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGGAGATGCTGAAGATGCACC	0.448000													9	94					0	0	0.000978	0	0
RPL11	6135	broad.mit.edu	37	1	24021184	24021184	+	Missense_Mutation	SNP	C	C	T	rs11556036		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:24021184C>T	ENST00000374550.3	+	4	344	c.299C>T	c.(298-300)tCa>tTa	p.S100L	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	100					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	p.S100L(2)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		AACAACTTCTCAGATACTGGA	0.438000													33	123					0	0	0.009535	0	0
UTRN	7402	broad.mit.edu	37	6	145103245	145103245	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:145103245C>G	ENST00000367545.3	+	60	8820	c.8820C>G	c.(8818-8820)ctC>ctG	p.L2940L	UTRN_ENST00000367526.4_Silent_p.L495L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2940	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.L2940L(2)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATTGGTTGCTCAATGTCTATG	0.323000													9	54					0	0	0.008291	0	0
GC	2638	broad.mit.edu	37	4	72634141	72634141	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr4:72634141G>T	ENST00000273951.8	-	3	481	c.138C>A	c.(136-138)gtC>gtA	p.V46V	GC_ENST00000504199.1_Silent_p.V65V|GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Silent_p.V46V	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	46	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	p.V65V(2)|p.V46V(2)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TACTGTACAGGACTAGTGACC	0.468000													9	53					3.86212e-05	4.29274e-05	0.008291	1	0
IL1RAPL1	11141	broad.mit.edu	37	X	29972752	29972752	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chrX:29972752G>C	ENST00000378993.1	+	10	1988	c.1315G>C	c.(1315-1317)Gaa>Caa	p.E439Q	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.E439Q	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	439	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.E439Q(4)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGATATGCTTGAAAAGCATTA	0.373000													27	34					0	0	0.007291	0	0
SLC12A7	10723	broad.mit.edu	37	5	1089245	1089245	+	Splice_Site	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:1089245T>A	ENST00000264930.5	-	4	386		c.e4-2			NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7						potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	p.?(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCGCGGAGCCTGCGACAGAGC	0.682000													23	251					0	0	0.001882	0	0
CCDC90B	60492	broad.mit.edu	37	11	82985720	82985720	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:82985720C>G	ENST00000529689.1	-	4	822	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	CCDC90B_ENST00000529611.1_Missense_Mutation_p.E29Q|CCDC90B_ENST00000525503.1_Missense_Mutation_p.E29Q|CCDC90B_ENST00000529073.1_Missense_Mutation_p.E130Q|CCDC90B_ENST00000455220.2_Missense_Mutation_p.E121Q			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	130						integral to membrane|mitochondrion		p.E130Q(2)		kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TCACTTTTCTCTAGGATGACC	0.308000													13	49					0	0	0.004007	0	0
MLH1	4292	broad.mit.edu	37	3	37059088	37059088	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:37059088C>T	ENST00000231790.2	+	10	1098	c.882C>T	c.(880-882)ctC>ctT	p.L294L	MLH1_ENST00000458205.2_Silent_p.L53L|MLH1_ENST00000455445.2_Silent_p.L53L|MLH1_ENST00000536378.1_Silent_p.L53L|MLH1_ENST00000435176.1_Silent_p.L196L|MLH1_ENST00000539477.1_Silent_p.L53L	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	294			Missing (in HNPCC2).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.L294L(2)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TCCTGTACCTCAGGTAATGTA	0.418000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				29	112					0	0	0.008361	0	0
PCMTD2	55251	broad.mit.edu	37	20	62896764	62896764	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr20:62896764C>T	ENST00000308824.6	+	4	691	c.564C>T	c.(562-564)gtC>gtT	p.V188V	PCMTD2_ENST00000369758.3_Silent_p.V188V|PCMTD2_ENST00000299468.7_Silent_p.V188V	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	188						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	p.V188V(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGATCCTTGTCATGCCACTGG	0.468000													20	100					0	0	0.007413	0	0
ZNF546	339327	broad.mit.edu	37	19	40519640	40519640	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:40519640C>G	ENST00000347077.4	+	7	679	c.463C>G	c.(463-465)Caa>Gaa	p.Q155E	ZNF546_ENST00000600094.1_Missense_Mutation_p.Q129E|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q155E(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTATTTATCTCAATTGCAGAC	0.313000													21	210					0	0	0.010504	0	0
COBL	23242	broad.mit.edu	37	7	51261203	51261203	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:51261203G>A	ENST00000395542.2	-	3	513	c.329C>T	c.(328-330)tCa>tTa	p.S110L	COBL_ENST00000265136.7_Missense_Mutation_p.S110L|COBL_ENST00000441453.1_Missense_Mutation_p.S110L|COBL_ENST00000395540.2_Missense_Mutation_p.S110L			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	110								p.S110L(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTGGGTTTCTGAAGACCGAAT	0.423000													22	87					0	0	0.002299	0	0
EPAS1	2034	broad.mit.edu	37	2	46608818	46608818	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:46608818G>A	ENST00000263734.3	+	13	2639	c.2129G>A	c.(2128-2130)cGa>cAa	p.R710Q		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	710					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	p.R710Q(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AAGCTGAAGCGACAGCTGGAG	0.617000													17	106					0	0	0.006122	0	0
ZNF507	22847	broad.mit.edu	37	19	32844370	32844370	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:32844370C>G	ENST00000311921.3	+	2	826	c.634C>G	c.(634-636)Cca>Gca	p.P212A	ZNF507_ENST00000355898.5_Missense_Mutation_p.P212A|ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000544431.1_Missense_Mutation_p.P212A	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P212A(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TGAAACCATTCCAGATATCCC	0.453000													19	196					0	0	0.006122	0	0
MYCBP2	23077	broad.mit.edu	37	13	77759506	77759506	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr13:77759506C>G	ENST00000407578.2	-	32	4717	c.4451G>C	c.(4450-4452)gGa>gCa	p.G1484A	MYCBP2_ENST00000544440.2_Missense_Mutation_p.G1446A|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G1446A|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.G1446A(4)|p.G1484A(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AACTGCTTTTCCTGTAGCTTT	0.323000													42	169					0	0	0.002852	0	0
BAX	581	broad.mit.edu	37	19	49459574	49459574	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:49459574G>T	ENST00000293288.8	+	4	353	c.353G>T	c.(352-354)aGc>aTc	p.S118I	BAX_ENST00000345358.7_Missense_Mutation_p.S118I|BAX_ENST00000391871.3_3'UTR|BAX_ENST00000354470.3_Missense_Mutation_p.S69I|BAX_ENST00000539787.1_Missense_Mutation_p.S118I|BAX_ENST00000415969.2_Missense_Mutation_p.S118I	NM_004324.3	NP_004315.1	Q07812	BAX_HUMAN	BCL2-associated X protein	118					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity	p.S118I(4)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		TACTTTGCCAGCAAACTGGTG	0.587000													30	99					7.26314e-15	8.9804e-15	0.007291	1	0
FXR1	8087	broad.mit.edu	37	3	180671582	180671582	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:180671582C>T	ENST00000357559.4	+	9	1218	c.834C>T	c.(832-834)ttC>ttT	p.F278F	FXR1_ENST00000480918.1_Silent_p.F265F|FXR1_ENST00000445140.2_Silent_p.F278F|FXR1_ENST00000491062.1_Silent_p.F229F|FXR1_ENST00000468861.1_Silent_p.F193F|FXR1_ENST00000305586.7_Silent_p.F193F	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	278					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		p.F278F(2)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			CTAGAGGTTTCTTGGAATTTG	0.338000													47	152					0	0	0.003610	0	0
HEPH	9843	broad.mit.edu	37	X	65476147	65476147	+	Silent	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chrX:65476147T>A	ENST00000519389.1	+	17	3212	c.3033T>A	c.(3031-3033)acT>acA	p.T1011T	HEPH_ENST00000343002.2_Silent_p.T957T|HEPH_ENST00000374727.3_Silent_p.T960T|HEPH_ENST00000419594.1_Silent_p.T768T|HEPH_ENST00000336279.5_Silent_p.T690T|HEPH_ENST00000441993.2_Silent_p.T960T			Q9BQS7	HEPH_HUMAN	hephaestin	957	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.T957T(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGGATGAAACTTTCTTGGAGA	0.398000													4	71					0	0	0.009096	0	0
NPPA	4878	broad.mit.edu	37	1	11907671	11907671	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:11907671C>G	ENST00000376480.3	-	1	169	c.71G>C	c.(70-72)aGa>aCa	p.R24T	NPPA_ENST00000376476.1_Intron|NPPA-AS1_ENST00000446542.1_RNA|NPPA-AS1_ENST00000400892.2_RNA	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	24					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity	p.R24T(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGATTAGCTCTGGTCTGACC	0.562000													28	273					0	0	0.007291	0	0
CRHR1	1394	broad.mit.edu	37	17	43912048	43912048	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr17:43912048C>A	ENST00000314537.5	+	13	1391	c.1166C>A	c.(1165-1167)gCc>gAc	p.A389D	CRHR1_ENST00000577353.1_Missense_Mutation_p.A375D|CRHR1_ENST00000398285.3_Missense_Mutation_p.A418D|CRHR1_ENST00000352855.5_Missense_Mutation_p.A349D|CRHR1_ENST00000293493.7_Missense_Mutation_p.A214D|CRHR1_ENST00000339069.5_Missense_Mutation_p.P243T	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	418					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	p.A389D(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TCGATCCGTGCCCGAGTGGCC	0.632000													9	103					0.00829132	0.00887561	0.008291	1	0
TSC22D2	9819	broad.mit.edu	37	3	150128747	150128747	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:150128747A>T	ENST00000361875.2	+	1	2626	c.1610A>T	c.(1609-1611)cAg>cTg	p.Q537L	TSC22D2_ENST00000361136.2_Missense_Mutation_p.Q537L	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	537							sequence-specific DNA binding transcription factor activity	p.Q537L(2)		cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CCTCTGGCCCAGTCGCAACAG	0.602000													14	77					0	0	0.004990	0	0
TIFAB	497189	broad.mit.edu	37	5	134785284	134785284	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:134785284C>T	ENST00000537858.1	-	2	546	c.346G>A	c.(346-348)Gta>Ata	p.V116I		NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	TRAF-interacting protein with forkhead-associated domain, family member B	116										breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCTTCTTCTACGCGAACCAGC	0.557000													6	327					0	0	0.001984	0	0
RTEL1	51750	broad.mit.edu	37	20	62321110	62321110	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr20:62321110C>G	ENST00000318100.4	+	24	2860	c.2033C>G	c.(2032-2034)tCt>tGt	p.S678C	RTEL1_ENST00000360203.5_Missense_Mutation_p.S678C|RTEL1_ENST00000508582.2_Missense_Mutation_p.S702C|RTEL1_ENST00000370018.3_Missense_Mutation_p.S678C|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.S678C			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	678					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	p.S678C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CAGTTCCTCTCTGGGCAGGAG	0.697000													4	55					0	0	0.001168	0	0
ERI3	79033	broad.mit.edu	37	1	44785335	44785335	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:44785335C>T	ENST00000372257.2	-	4	752	c.571G>A	c.(571-573)Gta>Ata	p.V191I	ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000372259.5_Missense_Mutation_p.V76I|ERI3_ENST00000537474.1_Missense_Mutation_p.V14I	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	191	Exonuclease.					intracellular	exonuclease activity|metal ion binding|nucleic acid binding	p.V191I(2)		endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGATGGACTACAGGCTGGACA	0.517000													18	215					0	0	0.007413	0	0
SZT2	23334	broad.mit.edu	37	1	43893319	43893319	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:43893319C>T	ENST00000562955.1	+	25	3546	c.3546C>T	c.(3544-3546)gtC>gtT	p.V1182V	SZT2_ENST00000372442.1_Silent_p.V340V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1239						peroxisome		p.V340V(4)|p.V1182V(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGTGTCCTGTCTACATCTACA	0.602000													19	140					0	0	0.007413	0	0
PIGX	54965	broad.mit.edu	37	3	196460684	196460684	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:196460684C>G	ENST00000314118.4	+	6	847	c.565C>G	c.(565-567)Cta>Gta	p.L189V	PIGX_ENST00000541663.1_Missense_Mutation_p.L140V	NM_017861.3	NP_060331.3	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	230					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane		p.L189V(2)		endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		ACATACCTCTCTAGTATGTTC	0.378000													37	96					0	0	0.004289	0	0
CPA3	1359	broad.mit.edu	37	3	148596502	148596502	+	Silent	SNP	T	T	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:148596502T>C	ENST00000296046.3	+	5	493	c.441T>C	c.(439-441)tcT>tcC	p.S147S	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	147					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	p.S147S(2)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AAATTGGATCTACTGTTGAAG	0.299000													21	98					0	0	0.002299	0	0
DHRS9	10170	broad.mit.edu	37	2	169938312	169938312	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:169938312C>T	ENST00000327239.4	+	5	1725	c.221C>T	c.(220-222)tCa>tTa	p.S74L	DHRS9_ENST00000602501.1_Missense_Mutation_p.S74L|DHRS9_ENST00000436483.2_Missense_Mutation_p.S74L|DHRS9_ENST00000432060.2_Missense_Mutation_p.S134L|DHRS9_ENST00000428522.1_Missense_Mutation_p.S74L|DHRS9_ENST00000412271.1_Missense_Mutation_p.S74L|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000357546.2_Missense_Mutation_p.S74L	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	74					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity	p.S74L(2)		breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GCAGAAACCTCAGAGAGACTT	0.468000													11	89					0	0	0.008291	0	0
BRD1	23774	broad.mit.edu	37	22	50192686	50192686	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr22:50192686G>A	ENST00000216267.8	-	3	2092	c.1606C>T	c.(1606-1608)Cgc>Tgc	p.R536C	BRD1_ENST00000542442.1_Missense_Mutation_p.R229C|BRD1_ENST00000457780.2_Missense_Mutation_p.R536C|BRD1_ENST00000404760.1_Missense_Mutation_p.R536C|BRD1_ENST00000404034.1_Missense_Mutation_p.R536C|BRD1_ENST00000342989.5_Missense_Mutation_p.R131C	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	536					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	p.R536C(2)|p.R131C(2)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ATCAGCAGGCGAGCGCGCTCC	0.622000													5	36					0	0	0.000602	0	0
TTC23	64927	broad.mit.edu	37	15	99696503	99696503	+	Splice_Site	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr15:99696503C>T	ENST00000394132.2	-	12	1811		c.e12-1		TTC23_ENST00000558613.1_Splice_Site|TTC23_ENST00000262074.4_Splice_Site|TTC23_ENST00000394130.1_Splice_Site|TTC23_ENST00000394135.3_Splice_Site|TTC23_ENST00000394129.2_Splice_Site|TTC23_ENST00000558663.1_Splice_Site|TTC23_ENST00000394136.1_Splice_Site			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23								binding	p.?(2)		endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			AGGTTGCTCTCTGTGAAAGGA	0.488000													15	50					0	0	0.003163	0	0
TBC1D31	93594	broad.mit.edu	37	8	124146378	124146378	+	Missense_Mutation	SNP	G	G	A	rs144947635	byFrequency	TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr8:124146378G>A	ENST00000287380.1	+	17	2521	c.2431G>A	c.(2431-2433)Gct>Act	p.A811T	TBC1D31_ENST00000378080.2_3'UTR|TBC1D31_ENST00000518805.1_Missense_Mutation_p.A365T|TBC1D31_ENST00000522420.1_Missense_Mutation_p.A706T|TBC1D31_ENST00000521676.1_Missense_Mutation_p.A688T|TBC1D31_ENST00000327098.5_Intron|TBC1D31_ENST00000309336.3_Missense_Mutation_p.A811T	NM_145647.3	NP_663622.2			TBC1 domain family, member 31									p.A811T(2)									TCGAGAAATTGCTGCCACAGC	0.318000													15	122					0	0	0.006122	0	0
OR2L8	391190	broad.mit.edu	37	1	248112672	248112672	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:248112672G>T	ENST00000357191.3	+	1	513	c.513G>T	c.(511-513)agG>agT	p.R171S	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R171S(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GCCGATCCAGGGCCATCAATC	0.483000													56	230					2.27459e-33	2.96161e-33	0.003610	1	0
PHKB	5257	broad.mit.edu	37	16	47723058	47723058	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:47723058G>C	ENST00000455779.1	+	28	2901	c.2716G>C	c.(2716-2718)Gat>Cat	p.D906H	PHKB_ENST00000323584.5_Missense_Mutation_p.D913H|PHKB_ENST00000566044.1_Missense_Mutation_p.D906H|PHKB_ENST00000299167.8_Missense_Mutation_p.D913H			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	913					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	p.D913H(4)|p.D906H(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GCTTCTGCTGGATATTCTGCA	0.428000													23	108					0	0	0.002299	0	0
EVI5	7813	broad.mit.edu	37	1	93159385	93159385	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:93159385G>A	ENST00000370331.1	-	9	1212	c.1203C>T	c.(1201-1203)gtC>gtT	p.V401V	EVI5_ENST00000543509.1_Silent_p.V401V|EVI5_ENST00000540033.1_Silent_p.V401V	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	401	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	p.V401V(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		AATTGTATTTGACTTGGTAAG	0.308000													39	215					0	0	0.002522	0	0
BMP2K	55589	broad.mit.edu	37	4	79793823	79793823	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr4:79793823C>T	ENST00000335016.5	+	13	1830	c.1664C>T	c.(1663-1665)cCg>cTg	p.P555L	BMP2K_ENST00000502871.1_Missense_Mutation_p.P555L	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	555	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity	p.P555L(4)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						CAACATCAGCCGTCTCAACAA	0.443000													8	61					0	0	0.003080	0	0
RAB3IP	117177	broad.mit.edu	37	12	70133583	70133583	+	Translation_Start_Site	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr12:70133583G>A	ENST00000550536.1	+	0	414				RAB3IP_ENST00000378815.6_Intron|RAB3IP_ENST00000483530.2_Intron|RAB3IP_ENST00000362025.5_De_novo_Start_OutOfFrame|RAB3IP_ENST00000247833.7_Intron|RAB3IP_ENST00000325555.9_Intron	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein						cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CAGAAGTGATGATGCTGGGTG	0.547000													10	52					0	0	0.006214	0	0
MTBP	27085	broad.mit.edu	37	8	121463465	121463465	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr8:121463465G>C	ENST00000305949.1	+	4	373	c.328G>C	c.(328-330)Gaa>Caa	p.E110Q		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	110					cell cycle arrest			p.E110Q(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AGATAAAATTGAAGATGTTCT	0.308000													15	48					0	0	0.003163	0	0
LNPEP	4012	broad.mit.edu	37	5	96350700	96350700	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:96350700G>A	ENST00000231368.5	+	13	2969	c.2277G>A	c.(2275-2277)gaG>gaA	p.E759E	LNPEP_ENST00000395770.3_Silent_p.E745E	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	759					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.E759E(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TTGGAAATGAGAACCATACTG	0.433000													34	172					0	0	0.003755	0	0
CNOT1	23019	broad.mit.edu	37	16	58580600	58580600	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:58580600C>T	ENST00000317147.5	-	28	4136	c.3804G>A	c.(3802-3804)gaG>gaA	p.E1268E	CNOT1_ENST00000245138.4_Silent_p.E119E|CNOT1_ENST00000441024.2_Silent_p.E1268E|CNOT1_ENST00000569240.1_Silent_p.E1263E	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1268					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.E1268E(4)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCTGATGTAGCTCAGCTAATA	0.388000													7	106					0	0	0.003080	0	0
DENND1B	163486	broad.mit.edu	37	1	197576259	197576259	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:197576259C>G	ENST00000235453.4	-	13	1052	c.775G>C	c.(775-777)Gat>Cat	p.D259H	DENND1B_ENST00000400967.2_Missense_Mutation_p.D259H|DENND1B_ENST00000367396.3_Missense_Mutation_p.D289H			Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	289	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	p.D289H(2)|p.D259H(2)		NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						GTGTTTGTATCAACATTTAAC	0.294000													9	62					0	0	0.008291	0	0
UNC5B	219699	broad.mit.edu	37	10	73053578	73053578	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr10:73053578C>G	ENST00000335350.6	+	13	2479	c.2063C>G	c.(2062-2064)tCc>tGc	p.S688C	UNC5B_ENST00000373192.4_Missense_Mutation_p.S677C	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	688					apoptosis|axon guidance|regulation of apoptosis	integral to membrane		p.S688C(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GAGTCCTATTCCCGCTCAGCA	0.657000													6	21					0	0	0.001984	0	0
SBSN	374897	broad.mit.edu	37	19	36017721	36017721	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:36017721C>A	ENST00000452271.2	-	1	1491	c.1463G>T	c.(1462-1464)gGg>gTg	p.G488V	SBSN_ENST00000518157.1_Missense_Mutation_p.G145V	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	145						extracellular region		p.G488V(2)|p.G145V(2)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGCTTCCTTCCCAGCCTGGTG	0.597000													23	152					1.22574e-08	1.44819e-08	0.002299	1	0
MED12	9968	broad.mit.edu	37	X	70352266	70352266	+	Silent	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chrX:70352266C>A	ENST00000333646.6	+	31	4492	c.4293C>A	c.(4291-4293)ctC>ctA	p.L1431L	MED12_ENST00000478889.1_Intron|MED12_ENST00000374080.3_Silent_p.L1431L|MED12_ENST00000374102.1_Silent_p.L1431L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1431					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.L1431L(4)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGGCCCCCCTCATTGCTAAAC	0.557000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						13	29					7.93312e-07	8.97399e-07	0.002450	1	0
ABHD11	83451	broad.mit.edu	37	7	73150991	73150991	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:73150991G>A	ENST00000222800.3	-	6	915	c.846C>T	c.(844-846)ctC>ctT	p.L282L	ABHD11_ENST00000395147.4_Silent_p.L225L|ABHD11_ENST00000437775.2_Silent_p.L275L|ABHD11_ENST00000458339.1_3'UTR	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	282							hydrolase activity	p.L282L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCCGAGGGAAGAGCCGCATAA	0.607000													19	103					0	0	0.001882	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062972	76062972	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:76062972G>A	ENST00000260045.3	-	5	1327	c.1222C>T	c.(1222-1224)Ctt>Ttt	p.L408F		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	408					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	p.L408F(2)		cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TTCTGAAAAAGAACAGAAATT	0.383000													21	44					0	0	0.004656	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54914904	54914904	+	Splice_Site	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr12:54914904A>G	ENST00000293373.6	+	18	1839	c.1758_splice	c.e18-1	p.Y587_splice	NCKAP1L_ENST00000545638.2_Splice_Site_p.Y537_splice	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	587					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	p.Y587C(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TTCCCATAGTACCCCCACCTC	0.517000													39	156					0	0	0.006999	0	0
OR1C1	26188	broad.mit.edu	37	1	247920842	247920842	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:247920842G>T	ENST00000408896.2	-	1	1140	c.867C>A	c.(865-867)atC>atA	p.I289I		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I289I(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TTAGGGTATAGATGAAAGGAT	0.458000													24	142					9.86323e-18	1.23387e-17	0.003954	1	0
ST6GALNAC3	256435	broad.mit.edu	37	1	77094490	77094490	+	Nonstop_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:77094490G>C	ENST00000328299.3	+	5	1065	c.917G>C	c.(916-918)tGa>tCa	p.*306S		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	0					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.*306S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ACATTGTCTTGATAATGGTTT	0.398000													32	117					0	0	0.002836	0	0
RRAD	6236	broad.mit.edu	37	16	66958740	66958740	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:66958740C>G	ENST00000299759.6	-	2	593	c.343G>C	c.(343-345)Gag>Cag	p.E115Q	RRAD_ENST00000420652.1_Missense_Mutation_p.E115Q			P55042	RAD_HUMAN	Ras-related associated with diabetes	115					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity	p.E115Q(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GGCCCGTCCTCCACACCGCCG	0.682000													5	43					0	0	0.001168	0	0
SLC38A11	151258	broad.mit.edu	37	2	165755217	165755217	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:165755217G>T	ENST00000303735.4	-	10	1215	c.885C>A	c.(883-885)ctC>ctA	p.L295L	SLC38A11_ENST00000409662.1_Silent_p.L317L|SLC38A11_ENST00000409058.1_Silent_p.L348L|SLC38A11_ENST00000409149.3_Silent_p.L317L	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	317					amino acid transport|sodium ion transport	integral to membrane		p.L295L(2)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TGATAAAAATGAGGGGAGTTG	0.408000													5	74					0.000602214	0.000653423	0.000602	1	0
CETN3	1070	broad.mit.edu	37	5	89695226	89695226	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:89695226C>A	ENST00000283122.3	-	4	533	c.409G>T	c.(409-411)Gaa>Taa	p.E137*	CETN3_ENST00000522864.1_Intron|CETN3_ENST00000522083.1_Nonsense_Mutation_p.E137*|CETN3_ENST00000522565.1_Nonsense_Mutation_p.E137*	NM_004365.2	NP_004356.2	O15182	CETN3_HUMAN	centrin, EF-hand protein, 3	137	EF-hand 4.				cell division|centrosome cycle|mitosis	centriole	calcium ion binding	p.E137*(2)		lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		CGAAGTTCTTCATCACTCATG	0.358000													19	98					1.56452e-12	1.88333e-12	0.007413	1	0
TACC2	10579	broad.mit.edu	37	10	123970013	123970013	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr10:123970013G>C	ENST00000369005.1	+	9	6413	c.6073G>C	c.(6073-6075)Gat>Cat	p.D2025H	TACC2_ENST00000515603.1_Missense_Mutation_p.D1980H|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000358010.1_Missense_Mutation_p.D171H|TACC2_ENST00000368999.1_Missense_Mutation_p.D103H|TACC2_ENST00000515273.1_Missense_Mutation_p.D2029H|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000360561.3_Missense_Mutation_p.D103H|TACC2_ENST00000453444.2_Missense_Mutation_p.D2029H|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000334433.3_Missense_Mutation_p.D2025H|TACC2_ENST00000513429.1_Missense_Mutation_p.D171H|TACC2_ENST00000260733.3_Missense_Mutation_p.D103H|TACC2_ENST00000369004.3_Missense_Mutation_p.D103H	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2025						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.D2025H(2)|p.D2025N(1)		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)				TGCCGTCTTCGATGAAGACAA	0.552000													13	24					0	0	0.001368	0	0
DSTN	11034	broad.mit.edu	37	20	17581487	17581487	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr20:17581487C>T	ENST00000246069.6	+	2	454	c.108C>T	c.(106-108)gtC>gtT	p.V36V	DSTN_ENST00000543261.1_Silent_p.V19V|DSTN_ENST00000474024.1_3'UTR	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	36	ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding	p.V36V(2)		endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AGAAGGCTGTCATTTTTTGTC	0.393000													34	78					0	0	0.002836	0	0
TMEM8C	389827	broad.mit.edu	37	9	136380685	136380685	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr9:136380685G>T	ENST00000339996.3	-	4	545	c.444C>A	c.(442-444)agC>agA	p.S148R	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	148						integral to membrane		p.S148R(2)		NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						GGGTGTAGACGCTCTTGTCTG	0.597000													18	75					2.37509e-13	2.89181e-13	0.010504	1	0
TEX264	51368	broad.mit.edu	37	3	51718530	51718530	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:51718530C>T	ENST00000415259.1	+	3	1441	c.360C>T	c.(358-360)ttC>ttT	p.F120F	TEX264_ENST00000395057.1_Silent_p.F120F|TEX264_ENST00000341333.5_Silent_p.F120F|TEX264_ENST00000416589.1_Silent_p.F120F|TEX264_ENST00000457573.1_Silent_p.F120F|TEX264_ENST00000463857.1_3'UTR			Q9Y6I9	TX264_HUMAN	testis expressed 264	120						extracellular region		p.F120F(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		AATTTGGCTTCAAGGTGTTCT	0.592000													10	93					0	0	0.008291	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110476724	110476724	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr8:110476724G>A	ENST00000378402.5	+	49	7767	c.7663G>A	c.(7663-7665)Gat>Aat	p.D2555N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2555					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.D2557N(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTTCTGAATGATGATGTGAC	0.443000										HNSCC(38;0.096)			14	79					0	0	0.001855	0	0
CD97	976	broad.mit.edu	37	19	14507264	14507264	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:14507264G>C	ENST00000242786.5	+	5	537	c.457G>C	c.(457-459)Gag>Cag	p.E153Q	CD97_ENST00000358600.3_Intron|CD97_ENST00000587728.1_Intron|CD97_ENST00000357355.3_Missense_Mutation_p.E153Q	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	153	EGF-like 3; calcium-binding (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.E153Q(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GTTCATACCTGAGGATCCGAA	0.597000													15	80					0	0	0.002780	0	0
SNHG14	104472715	broad.mit.edu	37	15	25420074	25420074	+	RNA	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr15:25420074G>A	ENST00000441592.2	+	0	179				SNORD115-3_ENST00000363100.1_RNA																							GCCCTGGGTTGGGTCAATGAT	0.512000													64	264					0	0	0.003610	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67854848	67854848	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:67854848G>T	ENST00000388833.3	+	3	469	c.92G>T	c.(91-93)cGa>cTa	p.R31L	TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.R85L|TSNAXIP1_ENST00000415766.3_Intron|TSNAXIP1_ENST00000562321.1_Intron	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	31					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		p.R31L(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TACCGGAAGCGAGTAGGGTAA	0.597000													54	352					2.01807e-28	2.59582e-28	0.003610	1	0
BCAS3	54828	broad.mit.edu	37	17	58946004	58946004	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr17:58946004C>G	ENST00000589222.1	+	8	612	c.544C>G	c.(544-546)Caa>Gaa	p.Q182E	BCAS3_ENST00000408905.3_Missense_Mutation_p.Q182E|BCAS3_ENST00000390652.5_Missense_Mutation_p.Q182E|BCAS3_ENST00000407086.3_Missense_Mutation_p.Q182E|BCAS3_ENST00000588462.1_Missense_Mutation_p.Q182E			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	182						nucleus		p.Q182E(2)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CAAGTCCATTCAATTTAAGAC	0.373000													23	81					0	0	0.006320	0	0
PLD5	200150	broad.mit.edu	37	1	242271010	242271010	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:242271010G>T	ENST00000442594.2	-	9	1435	c.926C>A	c.(925-927)gCg>gAg	p.A309E	PLD5_ENST00000427495.1_Missense_Mutation_p.A339E|PLD5_ENST00000536534.1_Missense_Mutation_p.A401E	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	401						integral to membrane	catalytic activity	p.A309E(2)|p.A401E(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AGTGCAAATCGCTTTAAGAGA	0.368000													50	191					2.74695e-27	3.51919e-27	0.003610	1	0
MYCBP2	23077	broad.mit.edu	37	13	77760049	77760049	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr13:77760049C>G	ENST00000407578.2	-	31	4667	c.4401G>C	c.(4399-4401)ctG>ctC	p.L1467L	MYCBP2_ENST00000544440.2_Silent_p.L1429L|MYCBP2_ENST00000357337.6_Silent_p.L1429L|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.L1429L(4)|p.L1467L(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCAATAACCTCAGACAACAGG	0.383000													12	71					0	0	0.002450	0	0
GRK6	2870	broad.mit.edu	37	5	176859748	176859748	+	Silent	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:176859748G>C	ENST00000355472.5	+	5	549	c.381G>C	c.(379-381)acG>acC	p.T127T	GRK6_ENST00000393576.3_Silent_p.T127T|GRK6_ENST00000507633.1_Silent_p.T127T|GRK6_ENST00000528793.1_Silent_p.T127T|GRK6_ENST00000355958.5_Silent_p.T127T	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	127	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.T127T(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTGGTGACGAACTGCACCC	0.632000													4	42					0	0	0.001984	0	0
BRAF	673	broad.mit.edu	37	7	140453193	140453193	+	Splice_Site	SNP	T	T	C	rs121913370		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:140453193T>C	ENST00000288602.6	-	15	1802	c.1741_splice	c.e15-1	p.N581_splice		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	581	Protein kinase.		N -> D (in CFC syndrome).|N -> S (in a colorectal adenocarcinoma sample; somatic mutation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.N581S(9)|p.N581I(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	AAGAAATATATCTGAGGTGTA	0.358000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				44	77					0	0	0.003610	0	0
LGR4	55366	broad.mit.edu	37	11	27389919	27389919	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:27389919G>A	ENST00000379214.4	-	18	2794	c.2351C>T	c.(2350-2352)tCt>tTt	p.S784F	LGR4_ENST00000389858.4_Missense_Mutation_p.S760F	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	784						integral to membrane|plasma membrane	protein-hormone receptor activity	p.S784F(2)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CAGAGTAACAGACTTCATTAT	0.403000													16	111					0	0	0.004007	0	0
ATN1	1822	broad.mit.edu	37	12	7045360	7045360	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr12:7045360C>G	ENST00000356654.4	+	5	1167	c.930C>G	c.(928-930)ctC>ctG	p.L310L	ATN1_ENST00000396684.2_Silent_p.L310L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	310					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	p.L310L(2)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGAGACCCCTCAACAATGCAT	0.637000													19	143					0	0	0.010504	0	0
COG3	83548	broad.mit.edu	37	13	46056606	46056606	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr13:46056606C>T	ENST00000349995.5	+	6	827	c.715C>T	c.(715-717)Cat>Tat	p.H239Y		NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	239					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity	p.H239Y(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		TATCTCATCTCATGTAAGTCA	0.328000													6	61					0	0	0.003080	0	0
CCDC87	55231	broad.mit.edu	37	11	66358453	66358453	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:66358453C>T	ENST00000333861.3	-	1	2101	c.2034G>A	c.(2032-2034)ctG>ctA	p.L678L		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	678								p.L678L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TCTGCAGGCTCAGAATTTTGT	0.532000													48	118					0	0	0.003610	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46120223	46120223	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:46120223C>T	ENST00000355105.3	-	6	1829	c.469G>A	c.(469-471)Gag>Aag	p.E157K	GPBP1L1_ENST00000290795.3_Missense_Mutation_p.E157K	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.E157K(2)	GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					ACAAAGTCCTCCTCTTCAAAC	0.388000													13	141					0	0	0.004007	0	0
RYR1	6261	broad.mit.edu	37	19	39025783	39025783	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:39025783G>C	ENST00000355481.4	+	79	11478	c.11347G>C	c.(11347-11349)Gag>Cag	p.E3783Q	RYR1_ENST00000360985.3_Missense_Mutation_p.E3788Q|RYR1_ENST00000359596.3_Missense_Mutation_p.E3788Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3788					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.E3788Q(2)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCTCCAGGAGAGACAGGTGC	0.557000													13	109					0	0	0.001855	0	0
STAG3	10734	broad.mit.edu	37	7	99786150	99786150	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:99786150G>A	ENST00000426455.1	+	6	915	c.508G>A	c.(508-510)Gag>Aag	p.E170K	STAG3_ENST00000317296.5_Missense_Mutation_p.E170K|STAG3_ENST00000394018.2_Intron			Q9UJ98	STAG3_HUMAN	stromal antigen 3	170					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	p.E170K(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGTTTAATGAGGTGGAAGA	0.413000													74	410					0	0	0.003610	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810208	106810208	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:106810208G>A	ENST00000526355.1	-	4	1652	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.S395F|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.S395F	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	395					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.S395F(2)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TTCAGAGCCAGAAGCCTCAGG	0.438000													24	233					0	0	0.002780	0	0
ABCA12	26154	broad.mit.edu	37	2	215919366	215919366	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:215919366T>A	ENST00000272895.7	-	4	559	c.340A>T	c.(340-342)Aac>Tac	p.N114Y		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	114					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.N114Y(2)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTATCCAGGTTGGATGACTTT	0.393000													27	231					0	0	0.006320	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768409	31768409	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:31768409C>A	ENST00000240587.4	-	2	2617	c.2290G>T	c.(2290-2292)Gcc>Tcc	p.A764S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	764					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A581S(2)|p.A764S(2)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGCGGGGTGGCCACAGCAGCC	0.602000													14	241					3.45872e-05	3.87134e-05	0.004007	1	0
ABCA13	154664	broad.mit.edu	37	7	48349715	48349715	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:48349715G>C	ENST00000435803.1	+	24	9517	c.9493G>C	c.(9493-9495)Gat>Cat	p.D3165H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3165					transport	integral to membrane	ATP binding|ATPase activity	p.D3165H(2)|p.D3110H(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCGAAACTTGGATGTGCGAGC	0.502000													42	367					0	0	0.003214	0	0
FAM211B	388886	broad.mit.edu	37	22	24985872	24985872	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr22:24985872C>G	ENST00000318753.8	-	2	246	c.223G>C	c.(223-225)Gat>Cat	p.D75H	FAM211B_ENST00000495297.1_5'UTR|GGT1_ENST00000248923.4_Intron	NM_207644.2	NP_997527.2	Q2VPJ9	LRC6X_HUMAN	family with sequence similarity 211, member B	75								p.D75H(1)									AAGGCCACATCTCTGTAGAGG	0.607000													9	48					0	0	0.008291	0	0
OLFM4	10562	broad.mit.edu	37	13	53624648	53624648	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr13:53624648G>T	ENST00000219022.2	+	5	1353	c.1275G>T	c.(1273-1275)caG>caT	p.Q425H		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	425	Olfactomedin-like.				cell adhesion	extracellular space		p.Q425H(2)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ATACCAAGCAGTATAAACCAT	0.408000													15	133					4.14922e-12	4.97594e-12	0.004007	1	0
LOC101927905	101927905	broad.mit.edu	37	12	8388289	8388289	+	RNA	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr12:8388289G>A	ENST00000304751.9	+	0	279				FAM86FP_ENST00000427893.2_RNA														p.I124I(1)									CGTGAGAGATGATGGCTGTGC	0.592000													10	127					0	0	0.008291	0	0
PLCL1	5334	broad.mit.edu	37	2	198949863	198949863	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:198949863G>T	ENST00000428675.1	+	2	2020	c.1622G>T	c.(1621-1623)gGa>gTa	p.G541V	PLCL1_ENST00000437704.2_Missense_Mutation_p.G443V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	541	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.G541V(2)|p.G443V(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATTGTGAAAGGAAAGAAGTTG	0.388000													10	93					1.76689e-08	2.06461e-08	0.006214	1	0
NIPAL4	348938	broad.mit.edu	37	5	156899773	156899773	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:156899773C>G	ENST00000311946.7	+	6	1322	c.1206C>G	c.(1204-1206)ttC>ttG	p.F402L	ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.F383L	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	402						integral to membrane	receptor activity	p.F340L(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						TGGGCGTGTTCATGCTGCATG	0.547000													15	95					0	0	0.004007	0	0
CPS1	1373	broad.mit.edu	37	2	211542708	211542708	+	Nonstop_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:211542708A>G	ENST00000233072.5	+	38	4698	c.4502A>G	c.(4501-4503)tAg>tGg	p.*1501W	CPS1_ENST00000430249.2_Nonstop_Mutation_p.*1507W|CPS1_ENST00000451903.2_Nonstop_Mutation_p.*1050W	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	0					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.*1501W(2)|p.*1507W(2)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AAAGCAGCATAGAGATGCAGA	0.433000													51	204					0	0	0.003610	0	0
ELOVL5	60481	broad.mit.edu	37	6	53156718	53156718	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:53156718G>A	ENST00000542638.1	-	3	549	c.102C>T	c.(100-102)ccC>ccT	p.P34P	ELOVL5_ENST00000541407.1_Silent_p.P34P|ELOVL5_ENST00000486973.1_5'UTR|ELOVL5_ENST00000304434.6_Silent_p.P34P|ELOVL5_ENST00000370918.4_Silent_p.P34P			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	34					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	p.P34P(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					AGATAAATGTGGGTATATAAT	0.318000													11	123					0	0	0.001855	0	0
GPR183	1880	broad.mit.edu	37	13	99947431	99947431	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr13:99947431C>G	ENST00000376414.4	-	2	1052	c.969G>C	c.(967-969)ctG>ctC	p.L323L	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	323					humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.L323L(2)		cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						CTTGCCGTTTCAGCATCCTCA	0.408000													26	129					0	0	0.003954	0	0
SEZ6L	23544	broad.mit.edu	37	22	26771546	26771546	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr22:26771546G>A	ENST00000529632.2	+	14	2996	c.2800G>A	c.(2800-2802)Gaa>Aaa	p.E934K	SEZ6L_ENST00000360929.3_Missense_Mutation_p.E870K|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000403121.1_Missense_Mutation_p.E641K|SEZ6L_ENST00000402979.1_Missense_Mutation_p.E717K|SEZ6L_ENST00000248933.6_Missense_Mutation_p.E945K|SEZ6L_ENST00000343706.4_Missense_Mutation_p.E869K|SEZ6L_ENST00000411842.2_Intron|SEZ6L_ENST00000404234.3_Missense_Mutation_p.E944K	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	945						endoplasmic reticulum membrane|integral to membrane		p.E945K(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TTCAGTAGCAGAAGCGGCAGC	0.572000													6	45					0	0	0.003080	0	0
MAST3	23031	broad.mit.edu	37	19	18255868	18255868	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:18255868G>T	ENST00000262811.5	+	23	2781	c.2781G>T	c.(2779-2781)tcG>tcT	p.S927S	AC007192.6_ENST00000600364.1_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	927	Ser-rich.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.S949S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CTCTGTCCTCGAACCCGTCGT	0.667000													15	45					1.49906e-05	1.68975e-05	0.002450	1	0
LCAT	3931	broad.mit.edu	37	16	67976321	67976321	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:67976321G>C	ENST00000264005.5	-	5	722	c.693C>G	c.(691-693)atC>atG	p.I231M		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	231					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity	p.I231M(2)		cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		CCCCAAGAGAGATGAAGCCAT	0.582000													12	95					0	0	0.000978	0	0
MAP3K13	9175	broad.mit.edu	37	3	185169074	185169074	+	Splice_Site	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:185169074G>A	ENST00000265026.3	+	7	1503		c.e7-1		MAP3K13_ENST00000446828.1_Splice_Site|MAP3K13_ENST00000535426.1_Splice_Site|MAP3K13_ENST00000443863.1_Splice_Site|MAP3K13_ENST00000424227.1_Splice_Site	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13						activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	p.?(4)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TTCACTTTTAGGCAGAGTAAA	0.383000													30	81					0	0	0.007291	0	0
GSDMC	56169	broad.mit.edu	37	8	130789733	130789733	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr8:130789733C>T	ENST00000276708.4	-	2	982	c.101G>A	c.(100-102)cGt>cAt	p.R34H		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	34						mitochondrion		p.R34H(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						AACAAACTGACGTAATTTGGT	0.403000													27	147					0	0	0.005443	0	0
PNPLA7	375775	broad.mit.edu	37	9	140441330	140441330	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr9:140441330G>A	ENST00000406427.1	-	4	561	c.225C>T	c.(223-225)ttC>ttT	p.F75F	PNPLA7_ENST00000277531.4_Silent_p.F50F	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	50					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	p.F50F(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CTCTCTTCCGGAACCGGTACT	0.612000													21	85					0	0	0.003954	0	0
PURB	5814	broad.mit.edu	37	7	44924761	44924761	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:44924761C>T	ENST00000395699.2	-	1	199	c.187G>A	c.(187-189)Gag>Aag	p.E63K		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	63					regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding	p.E63K(1)		large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						GCGCCCACCTCGGCGATCTTG	0.632000													5	36					0	0	0.001168	0	0
OR10X1	128367	broad.mit.edu	37	1	158549566	158549566	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:158549566A>T	ENST00000368150.1	-	1	123	c.124T>A	c.(124-126)Ttt>Att	p.F42I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F42I(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ACAAAAAGAAATGTCTGTACA	0.418000													21	133					0	0	0.008871	0	0
CSMD3	114788	broad.mit.edu	37	8	113246694	113246694	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr8:113246694C>A	ENST00000297405.5	-	68	10884	c.10640G>T	c.(10639-10641)aGc>aTc	p.S3547I	CSMD3_ENST00000352409.3_Missense_Mutation_p.S3477I|CSMD3_ENST00000455883.2_Missense_Mutation_p.S3378I|CSMD3_ENST00000343508.3_Missense_Mutation_p.S3507I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3547						integral to membrane|plasma membrane		p.S3547I(2)|p.S3507I(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGCTTCCTGGCTTTTATATAC	0.323000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	164					0.000566183	0.000616425	0.004990	1	0
ZNF668	79759	broad.mit.edu	37	16	31073109	31073109	+	Silent	SNP	C	C	T	rs144972780	byFrequency	TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:31073109C>T	ENST00000538906.1	-	3	1924	c.1140G>A	c.(1138-1140)acG>acA	p.T380T	ZNF668_ENST00000394983.2_Silent_p.T380T|ZNF668_ENST00000300849.4_Silent_p.T380T|ZNF668_ENST00000426488.2_Silent_p.T403T|ZNF668_ENST00000539836.3_Silent_p.T403T|ZNF668_ENST00000417110.2_Silent_p.F99F|ZNF668_ENST00000535577.1_Silent_p.T380T	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T380T(2)|p.T403T(2)		breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GGCTATGCTTCGTGAGGCTGG	0.672000													36	322					0	0	0.004289	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121680889	121680889	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:121680889C>G	ENST00000393386.2	+	21	6068	c.5657C>G	c.(5656-5658)cCc>cGc	p.P1886R	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.P1019R	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1886	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.P1886R(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AAAGGAAGACCCAGTGGACGT	0.512000													20	125					0	0	0.010504	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	71					0	0	0.000602	0	0
FRMD8	83786	broad.mit.edu	37	11	65154527	65154527	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:65154527G>T	ENST00000317568.5	+	2	183	c.20G>T	c.(19-21)aGt>aTt	p.S7I	FRMD8_ENST00000355991.5_Missense_Mutation_p.S7I|FRMD8_ENST00000416776.2_Missense_Mutation_p.S7I|FRMD8_ENST00000531296.1_Missense_Mutation_p.S7I	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	7						cytoskeleton	binding	p.S7I(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						ACAGAAGGCAGTGCCGGGCAG	0.657000													94	192					1.25848e-56	1.6453e-56	0.003610	1	0
ZNF616	90317	broad.mit.edu	37	19	52619760	52619760	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:52619760G>T	ENST00000600228.1	-	4	918	c.657C>A	c.(655-657)ggC>ggA	p.G219G	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G219G(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GAAAGGCTTTGCCACACTCAT	0.393000													6	175					3.59834e-05	4.01353e-05	0.001168	1	0
SLC39A12	221074	broad.mit.edu	37	10	18292133	18292133	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr10:18292133C>G	ENST00000377369.2	+	12	2066	c.1793C>G	c.(1792-1794)tCt>tGt	p.S598C	SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12_ENST00000539911.1_Missense_Mutation_p.S464C|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S597C|SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S561C	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	598					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.S561C(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCTGGACTTTCTATGAAGACT	0.408000													20	182					0	0	0.010504	0	0
ASNS	440	broad.mit.edu	37	7	97486051	97486051	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:97486051G>A	ENST00000175506.4	-	9	1509	c.981C>T	c.(979-981)gtC>gtT	p.V327V	ASNS_ENST00000422745.1_Silent_p.V306V|ASNS_ENST00000394308.3_Silent_p.V327V|ASNS_ENST00000394309.3_Silent_p.V327V|ASNS_ENST00000455086.1_Silent_p.V244V|ASNS_ENST00000437628.1_Silent_p.V244V|ASNS_ENST00000444334.1_Silent_p.V306V	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	327	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	p.V327V(2)		ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGGAAAATATGACTTCATCCA	0.318000													18	158					0	0	0.007413	0	0
CCDC146	57639	broad.mit.edu	37	7	76889471	76889471	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:76889471G>C	ENST00000285871.4	+	8	1031	c.904G>C	c.(904-906)Gaa>Caa	p.E302Q	CCDC146_ENST00000431197.1_Missense_Mutation_p.E48Q|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	302								p.E302Q(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AGCCTTACTTGAAATCAAAGA	0.348000													30	70					0	0	0.003271	0	0
MOCS3	27304	broad.mit.edu	37	20	49575979	49575979	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr20:49575979C>T	ENST00000244051.1	+	1	617	c.600C>T	c.(598-600)ctC>ctT	p.L200L		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	200					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	p.L200L(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						GTCGGCCCCTCGTGTCTGCCA	0.602000													19	79					0	0	0.006122	0	0
C16orf45	89927	broad.mit.edu	37	16	15677017	15677017	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:15677017C>A	ENST00000300006.4	+	5	783	c.424C>A	c.(424-426)Caa>Aaa	p.Q142K	C16orf45_ENST00000452191.2_Missense_Mutation_p.Q125K|C16orf45_ENST00000561692.1_Missense_Mutation_p.Q94K|C16orf45_ENST00000565913.1_3'UTR|C16orf45_ENST00000566490.1_Intron	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	142								p.Q142K(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						TCACAGGGAGCAAGAAGAAGA	0.378000													44	224					3.05275e-18	3.83396e-18	0.003214	1	0
IGSF22	283284	broad.mit.edu	37	11	18735942	18735942	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:18735942C>T	ENST00000513874.1	-	13	1819	c.1680G>A	c.(1678-1680)caG>caA	p.Q560Q	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	560								p.Q560Q(4)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GCTTCACAATCTGCATGCCTG	0.597000													24	138					0	0	0.004656	0	0
MGAT3	4248	broad.mit.edu	37	22	39883979	39883979	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr22:39883979C>G	ENST00000341184.6	+	2	842	c.627C>G	c.(625-627)atC>atG	p.I209M		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	209					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	p.I209M(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GCCGCGTCATCAACGCCATCA	0.657000													4	21					0	0	0.009096	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222842	140222842	+	Missense_Mutation	SNP	C	C	T	rs146582216		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:140222842C>T	ENST00000531613.1	+	1	1936	c.1936C>T	c.(1936-1938)Cgt>Tgt	p.R646C	PCDHA8_ENST00000378123.3_Missense_Mutation_p.R646C|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018911.2	NP_061734.1												p.R646C(4)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGCGCCACCGTCTGCTGGT	0.662000													18	213					0	0	0.006122	0	0
TRIM7	81786	broad.mit.edu	37	5	180622504	180622504	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:180622504C>G	ENST00000393315.1	-	7	1271	c.574G>C	c.(574-576)Gag>Cag	p.E192Q	TRIM7_ENST00000274773.7_Missense_Mutation_p.E400Q|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000422067.2_Missense_Mutation_p.E192Q|TRIM7_ENST00000393319.3_Missense_Mutation_p.E218Q|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000361809.3_Missense_Mutation_p.E192Q	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	400						cytoplasm|nucleus	zinc ion binding	p.E400Q(2)		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)		ACCTCCACCTCCCAGTGATGC	0.716000													12	37					0	0	0.003163	0	0
GDAP2	54834	broad.mit.edu	37	1	118420645	118420645	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:118420645C>T	ENST00000369443.4	-	13	1681	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	GDAP2_ENST00000369442.3_Missense_Mutation_p.E478K	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	478	CRAL-TRIO.							p.E478K(2)		kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		GCATCATATTCAAGGACAAAA	0.453000													12	110					0	0	0.004007	0	0
C2orf47	79568	broad.mit.edu	37	2	200824033	200824033	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:200824033G>C	ENST00000295079.2	+	3	815	c.493G>C	c.(493-495)Gat>Cat	p.D165H	C2orf47_ENST00000469156.1_3'UTR|C2orf47_ENST00000392290.1_Missense_Mutation_p.D165H	NM_024520.2	NP_078796.2	Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	165						mitochondrion		p.D165H(2)		cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						GTGTAAATTTGATCTGTTGGA	0.323000													18	136					0	0	0.008871	0	0
DKK2	27123	broad.mit.edu	37	4	107845160	107845160	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr4:107845160T>C	ENST00000285311.3	-	4	1436	c.731A>G	c.(730-732)gAt>gGt	p.D244G	DKK2_ENST00000513208.1_Missense_Mutation_p.D144G|DKK2_ENST00000510463.1_Missense_Mutation_p.D198G	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	244	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		p.D244G(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GTAGGTGGCATCTTTCCATAC	0.458000													31	253					0	0	0.002096	0	0
USP34	9736	broad.mit.edu	37	2	61538783	61538783	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:61538783G>C	ENST00000398571.2	-	27	3785	c.3709C>G	c.(3709-3711)Ctt>Gtt	p.L1237V		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1237					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.L1237V(2)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCAGCCCTAAGATCTGCTACC	0.353000													8	91					0	0	0.004482	0	0
TSSC2	650368	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:3427759C>T	ENST00000529482.1	+	0	876																											TGTCTGCACACGTCCTGCAGT	0.612000													4	72					0	0	0.009096	0	0
GARS	2617	broad.mit.edu	37	7	30661020	30661020	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:30661020G>A	ENST00000389266.3	+	11	1612	c.1371G>A	c.(1369-1371)gaG>gaA	p.E457E		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	457					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	p.E457E(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GTTGGATTGAGATTGTTGGAT	0.368000													48	229					0	0	0.003214	0	0
POLK	51426	broad.mit.edu	37	5	74880722	74880722	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:74880722C>T	ENST00000241436.4	+	9	1369	c.1197C>T	c.(1195-1197)tcC>tcT	p.S399S	POLK_ENST00000508526.1_Intron|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000380481.3_Silent_p.S309S|POLK_ENST00000515295.1_Silent_p.S399S|POLK_ENST00000352007.5_Intron|POLK_ENST00000504026.1_Silent_p.S399S	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	399					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	p.S399S(4)		endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TTCATATCTCCTTGGGTCTAG	0.388000								DNA polymerases (catalytic subunits)					8	208					0	0	0.006214	0	0
UBAP2	55833	broad.mit.edu	37	9	33963754	33963754	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr9:33963754G>C	ENST00000379238.1	-	9	832	c.715C>G	c.(715-717)Ctg>Gtg	p.L239V	UBAP2_ENST00000418786.2_Missense_Mutation_p.L186V|UBAP2_ENST00000360802.1_Missense_Mutation_p.L239V|UBAP2_ENST00000449054.1_Missense_Mutation_p.L239V|UBAP2_ENST00000379239.4_De_novo_Start_InFrame|UBAP2_ENST00000539807.1_Intron			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	239								p.L239V(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TTGTTTGACAGATCCTGAGCT	0.284000													12	86					0	0	0.004007	0	0
FMN2	56776	broad.mit.edu	37	1	240497523	240497523	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:240497523T>G	ENST00000319653.9	+	13	4989	c.4759T>G	c.(4759-4761)Ttg>Gtg	p.L1587V	FMN2_ENST00000545751.1_Missense_Mutation_p.L183V	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1587	FH2.				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	p.L1730V(2)		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)			GAAGAAAGACTTGAAAGGTAA	0.353000													19	305					0	0	0.010504	0	0
MTHFD1	4522	broad.mit.edu	37	14	64882110	64882110	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr14:64882110C>T	ENST00000555709.1	+	5	662	c.275C>T	c.(274-276)tCt>tTt	p.S92F	MTHFD1_ENST00000545908.1_Missense_Mutation_p.S148F|MTHFD1_ENST00000216605.7_Missense_Mutation_p.S148F|MTHFD1_ENST00000555252.1_Missense_Mutation_p.S72F	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	92	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	AATGAAGACTCTACTGTACAT	0.353000													5	203					0	0	0.001168	0	0
GSDMD	79792	broad.mit.edu	37	8	144642079	144642079	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr8:144642079C>T	ENST00000526406.1	+	6	1233	c.350C>T	c.(349-351)tCa>tTa	p.S117L	GSDMD_ENST00000262580.4_Missense_Mutation_p.S117L|GSDMD_ENST00000533063.1_Missense_Mutation_p.S165L	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	117								p.S117L(1)		breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						TCCAGCACCTCAATGAATGTG	0.637000													12	48					0	0	0.001855	0	0
LGALS9	3965	broad.mit.edu	37	17	25967714	25967714	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr17:25967714G>T	ENST00000395473.2	+	3	1716	c.248G>T	c.(247-249)gGg>gTg	p.G83V	LGALS9_ENST00000448970.2_3'UTR|LGALS9_ENST00000413914.2_Missense_Mutation_p.G26V|LGALS9_ENST00000313648.6_Missense_Mutation_p.G83V|LGALS9_ENST00000310394.5_Missense_Mutation_p.G83V|AC015688.3_ENST00000584605.1_3'UTR|LGALS9_ENST00000302228.5_Missense_Mutation_p.G83V	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	83	Beta-galactoside binding 1.|Galectin 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	p.G83V(2)		endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GGAAGCTGGGGGCCCGAGGAG	0.547000													57	255					7.73544e-29	9.99031e-29	0.003610	1	0
IWS1	55677	broad.mit.edu	37	2	128263325	128263325	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:128263325C>A	ENST00000295321.4	-	3	413	c.154G>T	c.(154-156)Gaa>Taa	p.E52*	IWS1_ENST00000486662.1_5'UTR|AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Nonsense_Mutation_p.E59*	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	52					transcription, DNA-dependent	nucleus	DNA binding	p.E52*(2)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TCACTAGTTTCATTCTGAAAA	0.308000													20	210					1.00905e-13	1.23328e-13	0.008871	1	0
ACTN2	88	broad.mit.edu	37	1	236908017	236908017	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:236908017C>G	ENST00000366578.4	+	12	1513	c.1347C>G	c.(1345-1347)agC>agG	p.S449R	ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.S449R|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	449					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	p.S449R(2)		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)			CGTTCGAGAGCGACCTGGCAG	0.642000													17	73					0	0	0.004990	0	0
PPP6R3	55291	broad.mit.edu	37	11	68326137	68326137	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:68326137C>T	ENST00000393799.2	+	8	1102	c.835C>T	c.(835-837)Cga>Tga	p.R279*	PPP6R3_ENST00000529710.1_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000265637.4_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000393801.3_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000527403.2_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000524904.1_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000524845.1_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000393800.2_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000265636.5_Nonsense_Mutation_p.R279*			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	279					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ACTTGAGACACGACGACCAAC	0.348000													5	113					0	0	0.001168	0	0
MCTP1	79772	broad.mit.edu	37	5	94248517	94248517	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:94248517C>G	ENST00000515393.1	-	9	1514	c.1515G>C	c.(1513-1515)aaG>aaC	p.K505N	MCTP1_ENST00000505208.1_Missense_Mutation_p.K284N|MCTP1_ENST00000505078.1_Missense_Mutation_p.K21N|MCTP1_ENST00000429576.2_Missense_Mutation_p.K238N|MCTP1_ENST00000312216.8_Missense_Mutation_p.K284N	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	505	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.K505N(2)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTACCTTGCTCTTGTACTTCT	0.458000													25	100					0	0	0.005443	0	0
LTBP4	8425	broad.mit.edu	37	19	41105459	41105459	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:41105459T>G	ENST00000308370.7	+	3	338	c.338T>G	c.(337-339)cTg>cGg	p.L113R	LTBP4_ENST00000204005.9_Missense_Mutation_p.L76R|LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	113					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	p.L113R(2)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGCAGCCACTGACGTGAGTG	0.637000													49	377					0	0	0.003610	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													4	78					0	0	0.009096	0	0
DNAH8	1769	broad.mit.edu	37	6	38790666	38790666	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:38790666G>T	ENST00000359357.3	+	25	3179	c.2925G>T	c.(2923-2925)ggG>ggT	p.G975G	DNAH8_ENST00000441566.1_Silent_p.G975G|DNAH8_ENST00000449981.2_Silent_p.G1192G					dynein, axonemal, heavy chain 8									p.G975G(4)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTACCCGGGGGTAGCGGAGC	0.413000													10	58					0.00621372	0.00667399	0.006214	1	0
CCDC60	160777	broad.mit.edu	37	12	119916949	119916949	+	Missense_Mutation	SNP	G	G	A	rs144234053		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr12:119916949G>A	ENST00000327554.2	+	4	857	c.392G>A	c.(391-393)cGc>cAc	p.R131H	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	131								p.R131H(3)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GTCACACGTCGCCCATTCACT	0.473000													5	59					0	0	0.001984	0	0
HOXB1	3211	broad.mit.edu	37	17	46608134	46608134	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr17:46608134C>T	ENST00000239174.6	-	1	225	c.133G>A	c.(133-135)Gag>Aag	p.E45K	HOXB1_ENST00000577092.1_Missense_Mutation_p.E45K	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	45						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	p.E45K(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TAGCGGCCCTCGCTTGCATAG	0.682000													38	109					0	0	0.006230	0	0
AP4B1	10717	broad.mit.edu	37	1	114438396	114438396	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:114438396G>T	ENST00000369569.1	-	9	2055	c.1775C>A	c.(1774-1776)tCa>tAa	p.S592*	AP4B1_ENST00000256658.4_Nonsense_Mutation_p.S592*|AP4B1_ENST00000462591.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Nonsense_Mutation_p.S424*	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	592					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	p.S592*(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCAAAGGATGAAGTTTTAGG	0.443000													19	88					6.33239e-15	7.86004e-15	0.010504	1	0
GPATCH1	55094	broad.mit.edu	37	19	33581687	33581687	+	Splice_Site	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:33581687A>G	ENST00000170564.2	+	3	524	c.208_splice	c.e3-1	p.G70_splice		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	70						catalytic step 2 spliceosome	nucleic acid binding	p.G70G(2)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TTTTTTCAGGATGGACACCCT	0.373000													9	153					0	0	0.008291	0	0
EML2	24139	broad.mit.edu	37	19	46116895	46116895	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:46116895G>C	ENST00000536630.1	-	21	2307	c.2169C>G	c.(2167-2169)atC>atG	p.I723M	EML2_ENST00000245925.3_Missense_Mutation_p.I576M|EML2_ENST00000589876.1_Missense_Mutation_p.I576M|EML2_ENST00000587152.1_Missense_Mutation_p.I777M	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	576					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	p.I576M(2)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CCACAGCGTTGATATCAGTGC	0.567000													11	183					0	0	0.003163	0	0
PTBP3	9991	broad.mit.edu	37	9	115024748	115024748	+	Silent	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr9:115024748G>C	ENST00000334318.6	-	6	762	c.576C>G	c.(574-576)ctC>ctG	p.L192L	PTBP3_ENST00000458258.1_Silent_p.L195L|PTBP3_ENST00000374255.2_Silent_p.L189L|PTBP3_ENST00000374257.1_Silent_p.L161L|PTBP3_ENST00000343327.2_Silent_p.L94L|PTBP3_ENST00000487997.1_5'UTR	NM_001163790.2|NM_005156.6	NP_001157262.1|NP_005147.3	O95758	ROD1_HUMAN	polypyrimidine tract binding protein 3	189	RRM 2.				anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding	p.L189L(2)									CAGGGTAAAAGAGGTTTTCAA	0.433000													36	119					0	0	0.003755	0	0
PREPL	9581	broad.mit.edu	37	2	44569580	44569580	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:44569580C>T	ENST00000541738.1	-	5	847	c.461G>A	c.(460-462)cGc>cAc	p.R154H	PREPL_ENST00000410081.1_Missense_Mutation_p.R243H|PREPL_ENST00000409957.1_Missense_Mutation_p.R154H|PREPL_ENST00000409936.1_Missense_Mutation_p.R243H|PREPL_ENST00000409411.1_Missense_Mutation_p.R154H|PREPL_ENST00000409272.1_Missense_Mutation_p.R243H|PREPL_ENST00000378511.3_Missense_Mutation_p.R243H|PREPL_ENST00000260648.6_Missense_Mutation_p.R243H|PREPL_ENST00000378520.3_Missense_Mutation_p.R243H	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	243					proteolysis	cytosol	serine-type endopeptidase activity	p.R243H(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGTGTAAAAGCGTTCATTACG	0.378000													39	117					0	0	0.003214	0	0
GOLGA4	2803	broad.mit.edu	37	3	37396654	37396654	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:37396654G>T	ENST00000361924.2	+	22	7013	c.6639G>T	c.(6637-6639)ttG>ttT	p.L2213F	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.L2228F	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2213	GRIP.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	p.L2213_E2214>F*(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGAAAATTTTGGAAAGAGAAG	0.388000													20	106					1.28384e-07	1.47318e-07	0.001882	1	0
MACF1	23499	broad.mit.edu	37	1	39797800	39797800	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:39797800C>T	ENST00000564288.1	+	37	6317	c.5540C>T	c.(5539-5541)tCa>tTa	p.S1847L	MACF1_ENST00000372915.3_Missense_Mutation_p.S1852L|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.S1884L|MACF1_ENST00000289893.4_Missense_Mutation_p.S287L|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1852					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.S287L(2)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCCTCTGGTCATTCATGGGG	0.463000													34	151					0	0	0.002445	0	0
NAV3	89795	broad.mit.edu	37	12	78583831	78583831	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr12:78583831G>T	ENST00000397909.2	+	34	6296	c.6123G>T	c.(6121-6123)agG>agT	p.R2041S	NAV3_ENST00000228327.6_Missense_Mutation_p.R2019S|NAV3_ENST00000266692.7_Missense_Mutation_p.R1842S|NAV3_ENST00000536525.2_Missense_Mutation_p.R2019S|NAV3_ENST00000552300.1_3'UTR			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2041						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.R2019S(2)		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						TTACCCAAAGGTACTTTAACT	0.348000										HNSCC(70;0.22)			7	110					0.000442599	0.000483525	0.006214	1	0
PSD3	23362	broad.mit.edu	37	8	18430067	18430067	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr8:18430067G>A	ENST00000440756.2	-	14	2863	c.2761C>T	c.(2761-2763)Ctg>Ttg	p.L921L	PSD3_ENST00000428502.2_Silent_p.L248L|PSD3_ENST00000286485.8_Silent_p.L385L|PSD3_ENST00000327040.8_Silent_p.L919L|PSD3_ENST00000523619.1_Silent_p.L854L			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	920					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.L921L(2)|p.L385L(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GTGGCAGGCAGAAGTGGGCGG	0.408000													21	87					0	0	0.003954	0	0
KIF15	56992	broad.mit.edu	37	3	44894219	44894219	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:44894219G>A	ENST00000326047.4	+	35	4308	c.4159G>A	c.(4159-4161)Gaa>Aaa	p.E1387K	KIF15_ENST00000425755.1_Missense_Mutation_p.E1022K	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1387					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	p.E1387K(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GAAAAGAAGTGAATCTTGAGG	0.353000													7	78					0	0	0.001984	0	0
RUFY1	80230	broad.mit.edu	37	5	178996340	178996340	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:178996340G>A	ENST00000377001.2	+	5	742	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	RUFY1_ENST00000393438.2_Missense_Mutation_p.E140K|RUFY1_ENST00000319449.4_Missense_Mutation_p.E248K|RUFY1_ENST00000437570.2_Missense_Mutation_p.E140K			Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	248	RUN.				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	p.E140K(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGGAGGAAGAAGGGATGGT	0.478000										HNSCC(44;0.11)			17	273					0	0	0.006122	0	0
HCN1	348980	broad.mit.edu	37	5	45267266	45267266	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:45267266T>A	ENST00000303230.4	-	7	1765	c.1708A>T	c.(1708-1710)Aac>Tac	p.N570Y		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	570						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.N570Y(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGGACCTCGTTGAAATTGTCC	0.433000													9	198					0	0	0.006214	0	0
CACNA1E	777	broad.mit.edu	37	1	181480642	181480642	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:181480642A>G	ENST00000526775.1	+	3	673	c.508A>G	c.(508-510)Agt>Ggt	p.S170G	CACNA1E_ENST00000367573.2_Missense_Mutation_p.S170G|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S170G|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S121G|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S170G|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S121G	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	170					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.S170G(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGTGGTCCTCAGTGGGTAAGT	0.522000													48	206					0	0	0.003610	0	0
ZBBX	79740	broad.mit.edu	37	3	166958699	166958699	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:166958699C>T	ENST00000392766.2	-	21	2625	c.2285G>A	c.(2284-2286)gGa>gAa	p.G762E	ZBBX_ENST00000455345.2_Missense_Mutation_p.G801E|ZBBX_ENST00000392767.2_Missense_Mutation_p.G762E|ZBBX_ENST00000392764.1_Missense_Mutation_p.G733E|ZBBX_ENST00000307529.5_Missense_Mutation_p.G801E	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	762						intracellular	zinc ion binding	p.G801E(2)|p.G762E(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GGTATCTCTTCCAGAACAGCT	0.378000													19	79					0	0	0.006122	0	0
CHRNA4	1137	broad.mit.edu	37	20	61982028	61982028	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr20:61982028G>T	ENST00000370263.4	-	5	956	c.735C>A	c.(733-735)ttC>ttA	p.F245L	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	245					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.F245L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TGATGGTGTAGAAGAGCGGCA	0.592000													13	58					1.67942e-08	1.96961e-08	0.006122	1	0
ZFHX3	463	broad.mit.edu	37	16	72821294	72821294	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:72821294C>T	ENST00000268489.5	-	10	11553	c.10881G>A	c.(10879-10881)gcG>gcA	p.A3627A	ZFHX3_ENST00000397992.5_Silent_p.A2713A	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3627					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.A3627A(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AAGGGGGCTTCGCTGCCGAAG	0.637000													15	39					0	0	0.004990	0	0
GCAT	23464	broad.mit.edu	37	22	38211697	38211697	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr22:38211697T>C	ENST00000323205.6	+	7	983	c.920T>C	c.(919-921)cTg>cCg	p.L307P	GCAT_ENST00000248924.6_Missense_Mutation_p.L281P	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	281					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.L281P(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CCTGGGCCCCTGGTGTCCCTG	0.652000													23	190					0	0	0.002299	0	0
KLHL15	80311	broad.mit.edu	37	X	24006555	24006555	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chrX:24006555C>G	ENST00000328046.8	-	4	1553	c.1298G>C	c.(1297-1299)gGa>gCa	p.G433A		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	433								p.G433A(2)		autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						TGAGGTGATTCCACCGGTGAT	0.453000													66	82					0	0	0.003610	0	0
JAKMIP2	9832	broad.mit.edu	37	5	146997641	146997641	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:146997641G>C	ENST00000265272.5	-	19	2646	c.2179C>G	c.(2179-2181)Cta>Gta	p.L727V	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.L706V|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.L685V	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	727						Golgi apparatus		p.L727V(2)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTGCTGTAGAGCATTGTAC	0.408000													21	136					0	0	0.002299	0	0
UQCRQ	27089	broad.mit.edu	37	5	132203218	132203218	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:132203218G>C	ENST00000378670.3	+	3	334	c.193G>C	c.(193-195)Gaa>Caa	p.E65Q	UQCRQ_ENST00000378665.1_Missense_Mutation_p.E65Q|UQCRQ_ENST00000378667.1_Missense_Mutation_p.E65Q|UQCRQ_ENST00000496429.1_3'UTR	NM_014402.4	NP_055217.2	O14949	QCR8_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa	65					respiratory electron transport chain	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity	p.E65Q(2)		lung(3)	3		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGGGGGACTGAAGAGTTCGA	0.388000													10	64					0	0	0.008291	0	0
RIF1	55183	broad.mit.edu	37	2	152295239	152295239	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:152295239G>A	ENST00000243326.4	+	13	2008	c.1525G>A	c.(1525-1527)Gtg>Atg	p.V509M	RIF1_ENST00000428287.2_Missense_Mutation_p.V509M|RIF1_ENST00000430328.2_Missense_Mutation_p.V509M|RIF1_ENST00000453091.2_Missense_Mutation_p.V509M|RIF1_ENST00000444746.2_Missense_Mutation_p.V509M|RIF1_ENST00000433166.2_3'UTR			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	509					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	p.V509M(2)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AATTAGCTTGGTGAAGTCAGT	0.348000													18	63					0	0	0.007413	0	0
KIN	22944	broad.mit.edu	37	10	7820880	7820880	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr10:7820880T>A	ENST00000379562.3	-	5	526	c.479A>T	c.(478-480)aAg>aTg	p.K160M	KIN_ENST00000543003.1_Missense_Mutation_p.K54M|KIN_ENST00000535925.1_Missense_Mutation_p.K160M			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	160					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding	p.K160M(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AAGGTCCTGCTTTTTCTTTTT	0.453000													35	274					0	0	0.002836	0	0
FBXO41	150726	broad.mit.edu	37	2	73486384	73486384	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:73486384C>T	ENST00000521871.1	-	12	2905	c.2490G>A	c.(2488-2490)ggG>ggA	p.G830G	FBXO41_ENST00000520530.2_Silent_p.G830G|FBXO41_ENST00000295133.5_Silent_p.G891G			Q8TF61	FBX41_HUMAN	F-box protein 41	830						intracellular	protein binding|zinc ion binding	p.G454G(1)|p.G830G(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						AATCCGCAATCCCAATCTGGA	0.557000													14	113					0	0	0.002450	0	0
TMEM108	66000	broad.mit.edu	37	3	133099400	133099400	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:133099400G>A	ENST00000515826.1	+	3	968	c.845G>A	c.(844-846)aGa>aAa	p.R282K	TMEM108_ENST00000393130.3_Missense_Mutation_p.R282K|TMEM108_ENST00000321871.6_Missense_Mutation_p.R282K|TMEM108_ENST00000508711.1_Intron			Q6UXF1	TM108_HUMAN	transmembrane protein 108	282						integral to membrane		p.R282K(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCCTTCGCAGAGCAGCCCAG	0.647000													13	62					0	0	0.004990	0	0
KLKB1	3818	broad.mit.edu	37	4	187149394	187149394	+	Silent	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr4:187149394T>A	ENST00000264690.6	+	2	232	c.45T>A	c.(43-45)gcT>gcA	p.A15A	KLKB1_ENST00000513864.1_Silent_p.A15A	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	15					blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	p.A15A(4)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CCTTGTTTGCTACAGTTTCCT	0.353000													7	30					0	0	0.003080	0	0
MAP3K1	4214	broad.mit.edu	37	5	56183268	56183268	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:56183268C>G	ENST00000399503.3	+	18	4178	c.4178C>G	c.(4177-4179)gCc>gGc	p.A1393G		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1393	Protein kinase.				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	p.A1230G(2)|p.A1393G(2)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GGAGCTGCAGCCAGGTTGGCA	0.443000													11	158					0	0	0.001368	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137225	40137225	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:40137225C>A	ENST00000278198.2	-	2	2581	c.618G>T	c.(616-618)atG>atT	p.M206I	LRRC4C_ENST00000530763.1_Missense_Mutation_p.M206I|LRRC4C_ENST00000528697.1_Missense_Mutation_p.M206I|LRRC4C_ENST00000527150.1_Missense_Mutation_p.M206I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	206					regulation of axonogenesis	integral to membrane	protein binding	p.M206I(2)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAAGGTTGCACATGGCAAGGT	0.463000													19	141					8.10497e-08	9.40177e-08	0.010504	1	0
C12orf56	115749	broad.mit.edu	37	12	64678484	64678484	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr12:64678484C>G	ENST00000543942.2	-	8	1896	c.1270G>C	c.(1270-1272)Gaa>Caa	p.E424Q	C12orf56_ENST00000333722.5_Missense_Mutation_p.E264Q|RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000536975.1_5'UTR	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	427								p.E264Q(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		GACTCGGTTTCTGTTTCTCTG	0.373000													6	21					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179605502	179605502	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:179605502T>A	ENST00000589042.1	-	48	12682	c.12458A>T	c.(12457-12459)cAg>cTg	p.Q4153L	TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q3790L|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.Q3915L|TTN_ENST00000591111.1_Missense_Mutation_p.Q3836L|TTN_ENST00000342175.6_Missense_Mutation_p.Q3982L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3836							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Q3915L(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTACAATCTGCAGCTGTAG	0.458000													50	207					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9068944	9068944	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:9068944C>G	ENST00000397910.4	-	3	18705	c.18502G>C	c.(18502-18504)Ggc>Cgc	p.G6168R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6170	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G6168R(4)|p.G1801R(2)		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						GTCAGTTGGCCAAGAGATGTC	0.488000													23	76					0	0	0.002299	0	0
DFNA5	1687	broad.mit.edu	37	7	24756942	24756942	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:24756942C>A	ENST00000545231.1	-	7	1286	c.136G>T	c.(136-138)Gag>Tag	p.E46*	DFNA5_ENST00000342947.3_Nonsense_Mutation_p.E210*|DFNA5_ENST00000419307.1_Nonsense_Mutation_p.E46*|DFNA5_ENST00000409775.3_Nonsense_Mutation_p.E210*|DFNA5_ENST00000409970.1_Nonsense_Mutation_p.E46*|DFNA5_ENST00000559637.1_5'UTR			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	210					sensory perception of sound			p.E210*(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GCTGGGATCTCCAGCACCACG	0.587000													17	91					0.00400662	0.00431795	0.004007	1	0
OR7A5	26659	broad.mit.edu	37	19	14938176	14938176	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:14938176C>A	ENST00000322301.3	-	2	965	c.878G>T	c.(877-879)aGg>aTg	p.R293M	OR7A5_ENST00000594432.1_Missense_Mutation_p.R293M|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293M(2)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GTCTTTATTCCTCAGACTATA	0.468000													25	89					5.61819e-17	7.00079e-17	0.005443	1	0
NLRP13	126204	broad.mit.edu	37	19	56423835	56423835	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:56423835G>C	ENST00000588751.1	-	5	1372	c.1348C>G	c.(1348-1350)Cag>Gag	p.Q450E	NLRP13_ENST00000342929.3_Missense_Mutation_p.Q450E			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	450	NACHT.						ATP binding	p.Q450E(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GTGGTAGTCTGAGTGATTGAC	0.502000													18	121					0	0	0.010504	0	0
SMAD4	4089	broad.mit.edu	37	18	48573361	48573361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr18:48573361C>T	ENST00000590722.2	+	3	333	c.229C>T	c.(229-231)Caa>Taa	p.Q77*	SMAD4_ENST00000452201.2_5'UTR|RP11-729L2.2_ENST00000588256.1_3'UTR|SMAD4_ENST00000342988.3_5'UTR|SMAD4_ENST00000398417.2_5'UTR																							TCCAAAGGATCAAAATTGCTT	0.308000													17	34					0	0	0.004007	0	0
ABCA13	154664	broad.mit.edu	37	7	48563896	48563896	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:48563896G>A	ENST00000435803.1	+	54	14128	c.14104G>A	c.(14104-14106)Gaa>Aaa	p.E4702K	ABCA13_ENST00000544596.1_Missense_Mutation_p.E432K	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4702					transport	integral to membrane	ATP binding|ATPase activity	p.E4647K(2)|p.E4702K(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TACAGATGTTGAAAAAGAGGA	0.383000													6	27					0	0	0.004482	0	0
TTC8	123016	broad.mit.edu	37	14	89338775	89338775	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr14:89338775G>A	ENST00000338104.6	+	13	1426	c.1374G>A	c.(1372-1374)atG>atA	p.M458I	TTC8_ENST00000536576.1_Missense_Mutation_p.M203I|TTC8_ENST00000380656.2_Missense_Mutation_p.M442I|TTC8_ENST00000354441.6_Missense_Mutation_p.M177I|TTC8_ENST00000358622.5_Missense_Mutation_p.M244I|TTC8_ENST00000346301.4_Missense_Mutation_p.M402I|TTC8_ENST00000345383.5_Missense_Mutation_p.M432I			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	468					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	p.M442I(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGCTGGAGATGCGGAAGGGCC	0.532000													35	137					0	0	0.005524	0	0
OR2M4	26245	broad.mit.edu	37	1	248403046	248403046	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:248403046G>C	ENST00000306687.1	+	1	816	c.816G>C	c.(814-816)aaG>aaC	p.K272N		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K272N(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACCAGGACAAGATGGTGTCGG	0.502000													13	117					0	0	0.001855	0	0
PCLO	27445	broad.mit.edu	37	7	82763878	82763878	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:82763878C>T	ENST00000423517.2	-	3	3325	c.2988G>A	c.(2986-2988)gtG>gtA	p.V996V	PCLO_ENST00000333891.8_Silent_p.V996V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	942					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.V996V(4)|p.V942V(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTCCTTTTTCACAGGTATAC	0.468000													21	52					0	0	0.001882	0	0
OPLAH	26873	broad.mit.edu	37	8	145106271	145106271	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr8:145106271G>A	ENST00000426825.1	-	28	3904	c.3823C>T	c.(3823-3825)Cac>Tac	p.H1275Y	OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000528912.1_RNA	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1275							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	p.H1274Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	ACGCTGCCGTGCTCGGGAAAG	0.682000													6	20					0	0	0.001984	0	0
PPP6R3	55291	broad.mit.edu	37	11	68377414	68377414	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:68377414A>C	ENST00000393799.2	+	24	2778	c.2511A>C	c.(2509-2511)aaA>aaC	p.K837N	PPP6R3_ENST00000529710.1_Missense_Mutation_p.K751N|PPP6R3_ENST00000265637.4_Missense_Mutation_p.K785N|PPP6R3_ENST00000393801.3_Missense_Mutation_p.K837N|PPP6R3_ENST00000534534.1_Missense_Mutation_p.K599N|PPP6R3_ENST00000527403.2_Missense_Mutation_p.K796N|PPP6R3_ENST00000524904.1_Missense_Mutation_p.K825N|PPP6R3_ENST00000524845.1_Missense_Mutation_p.K802N|PPP6R3_ENST00000393800.2_Missense_Mutation_p.K831N|PPP6R3_ENST00000265636.5_Missense_Mutation_p.K751N			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	831					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	p.K837N(2)|p.K751N(2)		breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTGCTTGTAAAGACGCAGAGG	0.592000													60	140					0	0	0.003610	0	0
DNAJC13	23317	broad.mit.edu	37	3	132196902	132196902	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:132196902C>A	ENST00000260818.6	+	24	2875	c.2627C>A	c.(2626-2628)gCc>gAc	p.A876D		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	876							heat shock protein binding	p.A259D(1)|p.A876D(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TGTTTACAAGCCCTTGCTATT	0.333000													10	112					0.000673444	0.000728233	0.008291	1	0
ZFPM2	23414	broad.mit.edu	37	8	106813279	106813279	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr8:106813279G>A	ENST00000407775.2	+	8	1219	c.969G>A	c.(967-969)gtG>gtA	p.V323V	RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.V191V|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Silent_p.V54V|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.V191V|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	323					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.V323V(2)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTCTAGGAGTGAAAATGGAAG	0.418000													50	196					0	0	0.003610	0	0
TRA2A	29896	broad.mit.edu	37	7	23571409	23571409	+	Splice_Site	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:23571409C>G	ENST00000297071.4	-	1	251	c.36_splice	c.e1+1	p.R12_splice	TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000538367.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	12					nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding	p.R12T(2)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TGTACTCACTCTGCCCTCGAA	0.612000													12	99					0	0	0.003163	0	0
BAGE2	85319	broad.mit.edu	37	21	11047567	11047567	+	RNA	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr21:11047567C>T	ENST00000470054.1	-	0	687									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTATCACACACTAGCATCTTG	0.338000													17	680					0	0	0.007413	0	0
CYFIP2	26999	broad.mit.edu	37	5	156755057	156755057	+	Splice_Site	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:156755057G>T	ENST00000347377.6	+	19	2587	c.2156_splice	c.e19+1	p.S719_splice	CYFIP2_ENST00000541131.1_Splice_Site_p.S644_splice|CYFIP2_ENST00000435847.2_Splice_Site_p.S418_splice|CYFIP2_ENST00000522463.1_Splice_Site_p.S523_splice|CYFIP2_ENST00000442283.2_Splice_Site_p.S4_splice|CYFIP2_ENST00000318218.6_Splice_Site_p.S744_splice|CYFIP2_ENST00000377576.3_Splice_Site_p.S719_splice|CYFIP2_ENST00000521420.1_Splice_Site_p.S693_splice	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	744					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	p.S744I(4)|p.S719I(2)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGGCTGGCAGGTAGGAAAGC	0.468000													13	83					7.93312e-07	8.97399e-07	0.002450	1	0
DNAJC1	64215	broad.mit.edu	37	10	22048380	22048380	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr10:22048380C>T	ENST00000376980.3	-	11	1605	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N		NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	439					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	p.D439N(2)		cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				GGCCGGGCATCAGTGGCCCCG	0.662000													6	47					0	0	0.001984	0	0
SLC26A3	1811	broad.mit.edu	37	7	107416977	107416977	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:107416977C>T	ENST00000340010.5	-	15	1781	c.1597G>A	c.(1597-1599)Gaa>Aaa	p.E533K	SLC26A3_ENST00000422236.2_Missense_Mutation_p.E498K	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	533	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.E533K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTCACTCCTTCTGGCTCATAC	0.378000													11	124					0	0	0.000978	0	0
CCDC88A	55704	broad.mit.edu	37	2	55546020	55546020	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:55546020C>T	ENST00000436346.1	-	19	4124	c.3283G>A	c.(3283-3285)Gaa>Aaa	p.E1095K	CCDC88A_ENST00000336838.6_Missense_Mutation_p.E1094K|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E1095K|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E1094K|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1095					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	p.E1094K(2)|p.E1095K(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTATTCTGTTCTTGTAATGAC	0.368000													31	171					0	0	0.002445	0	0
C11orf70	85016	broad.mit.edu	37	11	101953881	101953881	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:101953881G>A	ENST00000434758.2	+	7	783	c.755G>A	c.(754-756)cGt>cAt	p.R252H		NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	252								p.R214H(2)		breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		CCTATCAGGCGTCACCTTCAT	0.343000													60	174					0	0	0.003610	0	0
UVRAG	7405	broad.mit.edu	37	11	75852254	75852254	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:75852254G>A	ENST00000356136.3	+	15	2138	c.1897G>A	c.(1897-1899)Gaa>Aaa	p.E633K	UVRAG_ENST00000538870.1_Missense_Mutation_p.E189K|UVRAG_ENST00000532130.1_Missense_Mutation_p.E261K|UVRAG_ENST00000533454.1_Missense_Mutation_p.E261K|UVRAG_ENST00000539288.1_Missense_Mutation_p.E261K|UVRAG_ENST00000528420.1_Missense_Mutation_p.E532K|UVRAG_ENST00000531818.1_Missense_Mutation_p.E261K	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	633					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	p.E633K(2)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GGAGCAAGCAGAAGAAATCAT	0.567000													7	105					0	0	0.001984	0	0
MYLK2	85366	broad.mit.edu	37	20	30418929	30418929	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr20:30418929T>C	ENST00000375994.2	+	9	1682	c.1409T>C	c.(1408-1410)gTg>gCg	p.V470A	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.V470A			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	470	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	p.V470A(2)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGTATGGGGGTGATCACCTAC	0.567000													39	144					0	0	0.002522	0	0
TRBC2	28638	broad.mit.edu	37	7	142498916	142498916	+	RNA	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:142498916G>A	ENST00000466254.1	+	0	192																											GCCCCTCAAGGAGCAGCCCGC	0.642000													38	174					0	0	0.006230	0	0
KNDC1	85442	broad.mit.edu	37	10	135032354	135032354	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr10:135032354C>G	ENST00000304613.3	+	27	4718	c.4697C>G	c.(4696-4698)tCc>tGc	p.S1566C	KNDC1_ENST00000368572.2_Missense_Mutation_p.S1568C			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1566	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			p.S1566C(2)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AACTTGCTGTCCAAATTTTTG	0.463000													94	277					0	0	0.003610	0	0
AKT2	208	broad.mit.edu	37	19	40745964	40745964	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:40745964G>A	ENST00000392038.2	-	7	925	c.627C>T	c.(625-627)caC>caT	p.H209H	AKT2_ENST00000579047.1_Silent_p.H147H|AKT2_ENST00000311278.6_Silent_p.H209H|AKT2_ENST00000424901.1_Silent_p.H209H	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	209	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.H209H(1)		breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TGAGGAACGGGTGCCTGGTGT	0.597000			A		"""ovarian, pancreatic """								33	946					0	0	0.009535	0	0
ATP11C	286410	broad.mit.edu	37	X	138832284	138832284	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chrX:138832284T>A	ENST00000370557.1	-	24	3746	c.2719A>T	c.(2719-2721)Atg>Ttg	p.M907L	ATP11C_ENST00000370543.1_Missense_Mutation_p.M913L|ATP11C_ENST00000359686.2_Missense_Mutation_p.M913L|ATP11C_ENST00000361648.2_Missense_Mutation_p.M913L|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Missense_Mutation_p.M913L			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	913					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.M913L(4)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ATATTGTACATTGTAAGGTAA	0.383000													24	49					0	0	0.002299	0	0
PEX14	5195	broad.mit.edu	37	1	10555367	10555367	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:10555367C>G	ENST00000356607.4	+	2	153	c.73C>G	c.(73-75)Cga>Gga	p.R25G	PEX14_ENST00000538836.1_5'UTR	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	25					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity	p.R25G(2)		breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		TGTGCTGCCTCGAGAGCCGCT	0.433000											OREG0013090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	54					0	0	0.003080	0	0
EXOC1	55763	broad.mit.edu	37	4	56737273	56737273	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr4:56737273A>G	ENST00000381295.2	+	7	1186	c.838A>G	c.(838-840)Atg>Gtg	p.M280V	EXOC1_ENST00000349598.6_Missense_Mutation_p.M280V|EXOC1_ENST00000346134.7_Missense_Mutation_p.M280V	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	280					exocytosis|protein transport	exocyst	protein binding	p.M280V(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					CTAGAACCACATGGACTTGGC	0.433000													6	107					0	0	0.001168	0	0
LYN	4067	broad.mit.edu	37	8	56866476	56866476	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr8:56866476G>C	ENST00000520220.2	+	8	934	c.660G>C	c.(658-660)gaG>gaC	p.E220D	LYN_ENST00000519728.1_Missense_Mutation_p.E241D	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	241	SH2.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	p.E241D(2)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			ATGCCTGGGAGATCCCCCGGG	0.527000													14	136					0	0	0.002450	0	0
TAAR9	134860	broad.mit.edu	37	6	132859813	132859813	+	RNA	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:132859813G>T	ENST00000434551.1	+	0	385					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TATCTCTGTTGATAGATACAT	0.383000													8	91					3.09899e-07	3.53063e-07	0.004482	1	0
KRTAP23-1	337963	broad.mit.edu	37	21	31720897	31720897	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr21:31720897A>C	ENST00000334160.4	-	1	27	c.28T>G	c.(28-30)Ttc>Gtc	p.F10V		NM_181624.1	NP_853655.1	A1A580	KR231_HUMAN	keratin associated protein 23-1	10						intermediate filament		p.F10V(2)		large_intestine(1)|lung(4)|prostate(1)	6						TGGGAGGAGAAGTTTCCACAG	0.537000													7	98					0	0	0.003080	0	0
TENM1	10178	broad.mit.edu	37	X	123870875	123870875	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chrX:123870875G>T	ENST00000422452.2	-	4	771	c.708C>A	c.(706-708)acC>acA	p.T236T	TENM1_ENST00000371130.3_Silent_p.T236T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.T238T(2)									CCTGCGTGCTGGTTGGGGGAG	0.557000													34	184					5.43694e-19	6.85527e-19	0.005524	1	0
ALG3	10195	broad.mit.edu	37	3	183960694	183960694	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:183960694C>T	ENST00000455059.1	-	8	1395	c.941G>A	c.(940-942)cGc>cAc	p.R314H	ALG3_ENST00000418734.2_Missense_Mutation_p.R298H|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000397676.3_Missense_Mutation_p.R354H|ALG3_ENST00000445626.2_Missense_Mutation_p.R306H			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	354					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	p.R306H(1)|p.R354H(1)		kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGGAGGGAGCGGCTGAAGCA	0.572000													6	39					0	0	0.003080	0	0
BCAR1	9564	broad.mit.edu	37	16	75263784	75263784	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:75263784G>A	ENST00000546196.1	-	7	3803	c.2151C>T	c.(2149-2151)ttC>ttT	p.F717F	BCAR1_ENST00000393422.2_Silent_p.F764F|BCAR1_ENST00000538440.2_Silent_p.F746F|BCAR1_ENST00000162330.5_Silent_p.F746F|BCAR1_ENST00000535626.2_Silent_p.F598F|BCAR1_ENST00000542031.2_Silent_p.F744F|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000393420.6_Silent_p.F764F|BCAR1_ENST00000420641.3_Silent_p.F764F|BCAR1_ENST00000418647.3_Silent_p.F792F			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	746					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	p.F746F(2)|p.F764F(2)|p.F792F(2)		breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCTCCAGGTAGAAGAGCAGCA	0.672000													18	75					0	0	0.008871	0	0
POT1	25913	broad.mit.edu	37	7	124503575	124503575	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:124503575G>A	ENST00000357628.3	-	8	973	c.375C>T	c.(373-375)ttC>ttT	p.F125F	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	125					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.F125F(4)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CCTCAGTAGTGAAGTTAAAAT	0.443000													77	180					0	0	0.003610	0	0
IMPG2	50939	broad.mit.edu	37	3	100949976	100949976	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:100949976C>T	ENST00000193391.7	-	16	3434	c.3247G>A	c.(3247-3249)Gag>Aag	p.E1083K		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1083	EGF-like 2.|Hyaluronan-binding motif involved in chondroitin sulfate C-binding (By similarity).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	p.E1083K(2)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CACCAGTTCTCACCCACCCGG	0.507000													46	228					0	0	0.003214	0	0
KIF26B	55083	broad.mit.edu	37	1	245530604	245530604	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:245530604C>T	ENST00000407071.2	+	3	1374	c.934C>T	c.(934-936)Cac>Tac	p.H312Y	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	312					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.H312Y(4)|p.H112Y(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CATCCAGGCTCACCAGTACCT	0.592000													6	20					0	0	0.003080	0	0
DNAJC14	85406	broad.mit.edu	37	12	56217256	56217256	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr12:56217256C>G	ENST00000357606.3	-	4	1733	c.1444G>C	c.(1444-1446)Gag>Cag	p.E482Q	RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.G111A|DNAJC14_ENST00000317287.5_Missense_Mutation_p.E482Q|DNAJC14_ENST00000317269.3_Missense_Mutation_p.E482Q			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	482	J.				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	p.E482Q(2)		breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TTGAAGGCCTCCTCAGCCCGG	0.438000													20	111					0	0	0.010504	0	0
KLHL3	26249	broad.mit.edu	37	5	136963999	136963999	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:136963999G>T	ENST00000508657.1	-	13	2196	c.1482C>A	c.(1480-1482)tgC>tgA	p.C494*	KLHL3_ENST00000309755.4_Nonsense_Mutation_p.C526*|KLHL3_ENST00000506491.1_Nonsense_Mutation_p.C444*|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000541417.1_3'UTR	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	526						cytoplasm|cytoskeleton	actin binding|structural molecule activity	p.C526*(2)|p.C526C(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CGTTGCGCCGGCACATGTTCA	0.537000													61	253					1.08141e-31	1.40231e-31	0.003610	1	0
SLC35B2	347734	broad.mit.edu	37	6	44222521	44222521	+	Silent	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:44222521G>C	ENST00000393812.3	-	4	1364	c.1221C>G	c.(1219-1221)ctC>ctG	p.L407L	SLC35B2_ENST00000538577.1_Silent_p.L314L|SLC35B2_ENST00000537814.1_Silent_p.L274L|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000393810.1_3'UTR	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	407					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	p.L407L(2)		breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CGTAGACTCTGAGCAGGAGGG	0.602000													21	142					0	0	0.001882	0	0
CACNG4	27092	broad.mit.edu	37	17	65027117	65027117	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr17:65027117G>T	ENST00000262138.3	+	4	983	c.981G>T	c.(979-981)gtG>gtT	p.V327V		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	327					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	p.V327V(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CGACCCCTGTGTGAGCCGCCT	0.572000													23	106					3.28513e-13	3.96953e-13	0.003954	1	0
NOP16	51491	broad.mit.edu	37	5	175812222	175812222	+	Splice_Site	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:175812222C>T	ENST00000389158.5	-	4	828	c.393_splice	c.e4+1	p.K131_splice	NOP16_ENST00000510123.1_Splice_Site_p.K131_splice|NOP16_ENST00000507413.1_Intron|NOP16_ENST00000509257.1_Silent_p.K131K			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	131						nucleolus		p.K106K(2)|p.K131K(2)		central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						AGCCGCTCACCTTATAGTCCT	0.562000													25	149					0	0	0.004656	0	0
FLCN	201163	broad.mit.edu	37	17	17122443	17122443	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr17:17122443C>A	ENST00000285071.4	-	9	1406	c.952G>T	c.(952-954)Gaa>Taa	p.E318*	RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	318					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	p.E318*(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TCCCGCCCTTCTGTACTCTCT	0.587000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				76	290					5.98988e-27	7.64308e-27	0.003610	1	0
PPP2R2A	5520	broad.mit.edu	37	8	26223870	26223870	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr8:26223870G>A	ENST00000380737.3	+	9	1341	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.E348K	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha									p.E338K(2)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TTCACTGTATGAAAATGACTG	0.308000													30	151					0	0	0.002836	0	0
GRK6	2870	broad.mit.edu	37	5	176867754	176867754	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:176867754C>T	ENST00000355472.5	+	14	1626	c.1458C>T	c.(1456-1458)gtC>gtT	p.V486V	GRK6_ENST00000393576.3_Silent_p.V452V|PRR7-AS1_ENST00000425316.3_RNA|GRK6_ENST00000528793.1_Silent_p.V486V|GRK6_ENST00000355958.5_Silent_p.V486V	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	486	AGC-kinase C-terminal.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.V486V(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCTACGGTCAAGGGCGTGG	0.582000													31	112					0	0	0.008361	0	0
OBSL1	23363	broad.mit.edu	37	2	220432056	220432056	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:220432056G>C	ENST00000404537.1	-	4	1832	c.1776C>G	c.(1774-1776)atC>atG	p.I592M	OBSL1_ENST00000603926.1_Missense_Mutation_p.I592M|OBSL1_ENST00000265318.4_Missense_Mutation_p.I592M|OBSL1_ENST00000373873.4_Missense_Mutation_p.I592M|OBSL1_ENST00000289656.3_Missense_Mutation_p.I179M|OBSL1_ENST00000373876.1_Missense_Mutation_p.I592M	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	592	Fibronectin type-III.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	p.I592M(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TGACTGTGCAGATGCGGAAGC	0.612000													4	27					0	0	0.009096	0	0
HYI	81888	broad.mit.edu	37	1	43917151	43917151	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:43917151G>A	ENST00000583037.1	-	7	885	c.471C>T	c.(469-471)ttC>ttT	p.F157F	SZT2_ENST00000372442.1_3'UTR|SZT2_ENST00000562955.1_3'UTR|HYI_ENST00000372426.1_Silent_p.F182F|HYI_ENST00000372432.1_Silent_p.F230F|HYI_ENST00000486909.1_Silent_p.F230F|HYI_ENST00000372434.1_Silent_p.F255F|HYI_ENST00000372425.4_Silent_p.F230F	NM_001190880.2	NP_001177809.1	Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	230							hydroxypyruvate isomerase activity	p.F230F(2)|p.F157F(2)		large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACAGATAGGGGAAATTCAGCT	0.607000													38	128					0	0	0.004878	0	0
NRG3	10718	broad.mit.edu	37	10	83635863	83635863	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr10:83635863C>T	ENST00000404547.1	+	1	767	c.767C>T	c.(766-768)tCt>tTt	p.S256F	NRG3_ENST00000372141.2_Missense_Mutation_p.S256F			P56975	NRG3_HUMAN	neuregulin 3	256	Poly-Ser.|Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.S256F(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		tcttcttcctcttcttcctcc	0.512000													4	12					0	0	0.009096	0	0
N4BP1	9683	broad.mit.edu	37	16	48594762	48594762	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:48594762C>T	ENST00000262384.3	-	2	2028	c.1792G>A	c.(1792-1794)Gat>Aat	p.D598N	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	598					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		p.D598N(2)|p.D645N(2)		breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TTTAGAGTATCTCGAAACCTT	0.423000													23	236					0	0	0.002780	0	0
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	G	rs121912660		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr17:7577099C>G	ENST00000420246.2	-	8	971	c.839G>C	c.(838-840)aGa>aCa	p.R280T	TP53_ENST00000455263.2_Missense_Mutation_p.R280T|TP53_ENST00000269305.4_Missense_Mutation_p.R280T|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R280T|TP53_ENST00000359597.4_Missense_Mutation_p.R280T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (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.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GCGCCGGTCTCTCCCAGGACA	0.542000		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)			18	53					0	0	0.007413	0	0
MUT	4594	broad.mit.edu	37	6	49425625	49425625	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:49425625G>C	ENST00000274813.3	-	3	659	c.532C>G	c.(532-534)Cct>Gct	p.P178A		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	178					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	p.P178A(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTTCTAAAGGAATTCCATCA	0.383000													13	101					0	0	0.001855	0	0
FSIP2	401024	broad.mit.edu	37	2	186670938	186670938	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:186670938G>C	ENST00000343098.5	+	17	17172	c.17172G>C	c.(17170-17172)aaG>aaC	p.K5724N	FSIP2_ENST00000424728.1_Missense_Mutation_p.K5635N	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.K333N(4)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGAAGTCCAAGAGAAATCTAG	0.388000													7	78					0	0	0.001984	0	0
EXOG	9941	broad.mit.edu	37	3	38548401	38548401	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:38548401C>T	ENST00000287675.5	+	5	683	c.587C>T	c.(586-588)tCt>tTt	p.S196F	EXOG_ENST00000358249.2_Missense_Mutation_p.S56F|EXOG_ENST00000422077.2_Missense_Mutation_p.S146F	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	196						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	p.S196F(2)		central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TGGGTGGTATCTGGGCCTTTG	0.353000													17	77					0	0	0.001882	0	0
C1orf87	127795	broad.mit.edu	37	1	60505791	60505791	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:60505791C>G	ENST00000371201.3	-	5	652	c.545G>C	c.(544-546)aGa>aCa	p.R182T	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	182							calcium ion binding	p.R182T(2)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAGTTCTCTTCTGACCAGGGC	0.423000													40	183					0	0	0.005524	0	0
CSMD1	64478	broad.mit.edu	37	8	2876054	2876054	+	Silent	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr8:2876054A>G	ENST00000520002.1	-	53	8532	c.7977T>C	c.(7975-7977)caT>caC	p.H2659H	CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000537824.1_Silent_p.H2658H|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Silent_p.H2659H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2659	Sushi 17.					integral to membrane		p.H2387H(2)|p.H2658H(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTCTCTGACATGAGACCCCA	0.483000													40	263					0	0	0.007835	0	0
SLC22A8	9376	broad.mit.edu	37	11	62761244	62761244	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:62761244G>C	ENST00000336232.2	-	9	1458	c.1323C>G	c.(1321-1323)atC>atG	p.I441M	SLC22A8_ENST00000430500.2_Missense_Mutation_p.I441M|SLC22A8_ENST00000311438.8_Missense_Mutation_p.I441M|SLC22A8_ENST00000535878.1_Missense_Mutation_p.I318M|SLC22A8_ENST00000545207.1_Missense_Mutation_p.I350M	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	441					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	p.I441M(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GCACCTACCTGATGACTGTGG	0.562000													9	97					0	0	0.000978	0	0
DNAH10	196385	broad.mit.edu	37	12	124323233	124323233	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr12:124323233C>G	ENST00000409039.3	+	28	4804	c.4779C>G	c.(4777-4779)atC>atG	p.I1593M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1593	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I185M(2)|p.I1593M(2)		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)		AGCACATGATCAAGGTCAGCC	0.557000													44	159					0	0	0.009718	0	0
NUMB	8650	broad.mit.edu	37	14	73749182	73749182	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr14:73749182G>C	ENST00000556772.1	-	5	2836	c.549C>G	c.(547-549)atC>atG	p.I183M	NUMB_ENST00000557597.1_Missense_Mutation_p.I316M|NUMB_ENST00000555394.1_Missense_Mutation_p.I327M|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000554546.1_Missense_Mutation_p.I316M|NUMB_ENST00000560335.1_Missense_Mutation_p.I229M|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000356296.4_Missense_Mutation_p.I327M|NUMB_ENST00000355058.3_Missense_Mutation_p.I327M|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000555738.2_Missense_Mutation_p.I218M|NUMB_ENST00000535282.1_Missense_Mutation_p.I316M|NUMB_ENST00000555238.1_Missense_Mutation_p.I327M|NUMB_ENST00000454166.4_Missense_Mutation_p.I229M|NUMB_ENST00000359560.3_Missense_Mutation_p.I316M			P49757	NUMB_HUMAN	numb homolog (Drosophila)	327	PID.				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane		p.I327M(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		ACAGGGAGCTGATGCTCTCTG	0.498000													21	88					0	0	0.010504	0	0
GPR27	2850	broad.mit.edu	37	3	71804103	71804103	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:71804103C>T	ENST00000304411.2	+	1	903	c.903C>T	c.(901-903)gtC>gtT	p.V301V		NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	301						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V301V(1)		kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		GGCCCTACGTCGTGGCCAGCT	0.672000													9	47					0	0	0.000978	0	0
ADD3	120	broad.mit.edu	37	10	111878416	111878416	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr10:111878416C>T	ENST00000277900.8	+	6	1004	c.639C>T	c.(637-639)ttC>ttT	p.F213F	ADD3_ENST00000360162.3_Silent_p.F213F|ADD3_ENST00000356080.4_Silent_p.F213F	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	213						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	p.F213F(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ATACAGGATTCAGTCCCCATG	0.393000													20	64					0	0	0.010504	0	0
PDGFRB	5159	broad.mit.edu	37	5	149514487	149514487	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:149514487C>G	ENST00000261799.4	-	4	926	c.457G>C	c.(457-459)Gac>Cac	p.D153H		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	153	Ig-like C2-type 2.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	p.D153H(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGCTGTGGGTCTGTTACTCGG	0.522000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								42	208					0	0	0.003214	0	0
TRPM7	54822	broad.mit.edu	37	15	50891429	50891429	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr15:50891429C>A	ENST00000313478.7	-	22	3334	c.3053G>T	c.(3052-3054)aGa>aTa	p.R1018I	TRPM7_ENST00000560955.1_Missense_Mutation_p.R1018I	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1018					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	p.R1018I(2)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TATTGCCTTTCTGGGAACACC	0.353000													29	113					1.50538e-07	1.72121e-07	0.006320	1	0
LCAT	3931	broad.mit.edu	37	16	67976321	67976321	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr16:67976321G>C	ENST00000264005.5	-	5	722	c.693C>G	c.(691-693)atC>atG	p.I231M		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	231					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity	p.I231M(2)		cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		CCCCAAGAGAGATGAAGCCAT	0.582000													3	20					0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165548362	165548362	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:165548362G>A	ENST00000264381.3	-	2	626	c.460C>T	c.(460-462)Cat>Tat	p.H154Y	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	154					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.H154Y(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TCATAAACATGTAAAGATGAT	0.383000													9	44					0	0	1	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19856916	19856916	+	RNA	SNP	T	T	C	rs56312412		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr14:19856916T>C	ENST00000548109.1	+	0	72																											AGTCTGTACATTCCAAACACT	0.393000													3	30					0	0	1	0	0
SAMD15	161394	broad.mit.edu	37	14	77845256	77845256	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr14:77845256G>C	ENST00000216471.4	+	1	1781	c.1495G>C	c.(1495-1497)Gag>Cag	p.E499Q	SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	499								p.E499Q(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGATCCCTCAGAGTCTCAGAC	0.408000													29	81					0	0	1	0	0
LGALS17A	400696	broad.mit.edu	37	19	40172135	40172135	+	RNA	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:40172135G>A	ENST00000412609.1	+	0	124																											CAGGGACACCGATCATCCCTT	0.532000													22	729					0	0	1	0	0
PLP1	5354	broad.mit.edu	37	X	103044264	103044264	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chrX:103044264C>T	ENST00000418604.1	+	7	979	c.699C>T	c.(697-699)ttC>ttT	p.F233F	PLP1_ENST00000303958.2_Silent_p.F233F|PLP1_ENST00000361621.2_Silent_p.F198F|PLP1_ENST00000466486.1_3'UTR	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	233					cell death|synaptic transmission	integral to membrane		p.F233F(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						TCCTGCAGTTCCAAATGACCT	0.413000													86	94					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48575671	48575671	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr18:48575671C>G	ENST00000342988.3	+	4	969	c.431C>G	c.(430-432)tCa>tGa	p.S144*	SMAD4_ENST00000398417.2_Nonsense_Mutation_p.S144*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.S144*|SMAD4_ENST00000452201.2_Nonsense_Mutation_p.S144*|RP11-729L2.2_ENST00000590722.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	144					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.S144*(5)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TAAGATCTCTCAGGATTAACA	0.294000													13	33					0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60613585	60613585	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr17:60613585A>G	ENST00000326270.9	+	7	686	c.418A>G	c.(418-420)Acg>Gcg	p.T140A	TLK2_ENST00000346027.5_Missense_Mutation_p.T140A|TLK2_ENST00000343388.7_Missense_Mutation_p.T108A|TLK2_ENST00000582809.1_5'UTR|TLK2_ENST00000542523.1_Missense_Mutation_p.T108A			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	140					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.T140A(4)|p.T139A(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AAAGGAGGCAACGGAGGAGCA	0.512000													36	142					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72893294	72893294	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr12:72893294T>C	ENST00000261180.4	+	6	1562	c.1466T>C	c.(1465-1467)cTg>cCg	p.L489P		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	489					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.L489P(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CAGAGGTTTCTGACCGATGTT	0.448000													27	129					0	0	1	0	0
DNAJB11	51726	broad.mit.edu	37	3	186301672	186301672	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:186301672G>C	ENST00000439351.1	+	9	1688	c.759G>C	c.(757-759)agG>agC	p.R253S	DNAJB11_ENST00000265028.3_Missense_Mutation_p.R253S			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	253					protein folding	endoplasmic reticulum lumen	heat shock protein binding	p.R253S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TATTTGAAAGGAGAGGAGATG	0.338000													9	153					0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43912048	43912048	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr17:43912048C>A	ENST00000314537.5	+	13	1391	c.1166C>A	c.(1165-1167)gCc>gAc	p.A389D	CRHR1_ENST00000398285.3_Missense_Mutation_p.A418D|CRHR1_ENST00000352855.5_Missense_Mutation_p.A349D|CRHR1_ENST00000339069.5_Missense_Mutation_p.P243T|CRHR1_ENST00000577353.1_Missense_Mutation_p.A375D|CRHR1_ENST00000293493.7_Missense_Mutation_p.A214D	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	418					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	p.A389D(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TCGATCCGTGCCCGAGTGGCC	0.632000													3	32					0.00024832	0.000257904	1	1	0
PIGX	54965	broad.mit.edu	37	3	196460684	196460684	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:196460684C>G	ENST00000314118.4	+	6	847	c.565C>G	c.(565-567)Cta>Gta	p.L189V	PIGX_ENST00000541663.1_Missense_Mutation_p.L140V	NM_017861.3	NP_060331.3	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	230					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane		p.L189V(2)		endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		ACATACCTCTCTAGTATGTTC	0.378000													31	98					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57567684	57567684	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr12:57567684C>T	ENST00000243077.3	+	22	3934	c.3468C>T	c.(3466-3468)acC>acT	p.T1156T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1156	LDL-receptor class A 10.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.T1156T(2)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCAACAACACCTCAGTCTGCC	0.622000													22	77					0	0	1	0	0
PRKACA	5566	broad.mit.edu	37	19	14218166	14218166	+	Silent	SNP	G	G	A	rs56105247	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:14218166G>A	ENST00000308677.4	-	2	298	c.102C>T	c.(100-102)ccC>ccT	p.P34P	PRKACA_ENST00000589994.1_Silent_p.P26P|PRKACA_ENST00000590853.1_Silent_p.P34P|PRKACA_ENST00000350356.3_5'UTR	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	34					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding	p.P26P(1)|p.P34P(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						TTACCTGAGCGGGACTTTCCC	0.527000													4	58					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140870387	140870387	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr9:140870387C>G	ENST00000371372.1	+	12	1717	c.1572C>G	c.(1570-1572)ctC>ctG	p.L524L	CACNA1B_ENST00000371355.4_Silent_p.L525L|CACNA1B_ENST00000371357.1_Silent_p.L525L|CACNA1B_ENST00000371363.1_Silent_p.L524L|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Silent_p.L524L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	524					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.L524L(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCCTGGGTCTCTTCCTCACAG	0.567000													5	20					0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17298312	17298312	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr9:17298312G>T	ENST00000380647.3	+	7	1192	c.1108G>T	c.(1108-1110)Gaa>Taa	p.E370*	CNTLN_ENST00000262360.5_Nonsense_Mutation_p.E370*|CNTLN_ENST00000425824.1_Nonsense_Mutation_p.E370*|CNTLN_ENST00000380641.4_Nonsense_Mutation_p.E370*			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	370						centriole|membrane	two-component sensor activity	p.E370*(2)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GAGAAATCAGGAAGATGTTCA	0.343000													20	34					2.39556e-15	2.66574e-15	1	1	0
SLCO5A1	81796	broad.mit.edu	37	8	70617351	70617351	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr8:70617351C>A	ENST00000260126.3	-	6	2243	c.1537G>T	c.(1537-1539)Gtg>Ttg	p.V513L	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.V458L|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.V513L	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	513						integral to membrane|plasma membrane	transporter activity	p.V513L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AGTAAAGACACACCACTGCAG	0.398000													16	181					1.3612e-06	1.44934e-06	1	1	0
CACNA1B	774	broad.mit.edu	37	9	140919511	140919511	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr9:140919511C>T	ENST00000277549.5	+	20	3318	c.749C>T	c.(748-750)gCa>gTa	p.A250V	CACNA1B_ENST00000371355.4_Missense_Mutation_p.A1059V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A1059V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A1058V|CACNA1B_ENST00000371372.1_Missense_Mutation_p.A1058V|CACNA1B_ENST00000545473.1_Missense_Mutation_p.A42V|CACNA1B_ENST00000371367.5_Missense_Mutation_p.A42V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A1058V			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1058					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.A1058V(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCAGAGGATGCAGACAATCAG	0.592000													9	43					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77760049	77760049	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr13:77760049C>G	ENST00000407578.2	-	31	4667	c.4401G>C	c.(4399-4401)ctG>ctC	p.L1467L	MYCBP2_ENST00000357337.6_Silent_p.L1429L|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Silent_p.L1429L	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.L1429L(4)|p.L1467L(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCAATAACCTCAGACAACAGG	0.383000													18	50					0	0	1	0	0
PDPR	55066	broad.mit.edu	37	16	70190452	70190452	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr16:70190452C>T	ENST00000288050.4	+	19	3267	c.2310C>T	c.(2308-2310)ttC>ttT	p.F770F	PDPR_ENST00000567046.1_Silent_p.F128F|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000542659.1_Silent_p.F115F|PDPR_ENST00000398122.3_Silent_p.F670F|PDPR_ENST00000568530.1_Silent_p.F770F|RP11-296I10.3_ENST00000566989.1_RNA	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	770					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	p.F770F(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TCACCATGTTCATCCTGGACG	0.532000													86	298					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617486	77617486	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr8:77617486C>G	ENST00000521891.2	+	2	1611	c.1163C>G	c.(1162-1164)aCc>aGc	p.T388S	ZFHX4_ENST00000455469.2_Missense_Mutation_p.T388S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T388S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T388S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	388						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T388S(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCGCGAGCACCTCGAGCTCA	0.532000										HNSCC(33;0.089)			5	24					0	0	1	0	0
STAT2	6773	broad.mit.edu	37	12	56744927	56744927	+	Missense_Mutation	SNP	C	C	T	rs149666262		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr12:56744927C>T	ENST00000314128.4	-	10	1012	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	STAT2_ENST00000557235.1_Missense_Mutation_p.R326Q|STAT2_ENST00000418572.2_Missense_Mutation_p.R326Q			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	330					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.R330Q(3)		NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GATGAGGGGTCGATGGGGAGT	0.507000													39	123					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74042320	74042320	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:74042320G>C	ENST00000409561.1	+	3	1091	c.970G>C	c.(970-972)Gag>Cag	p.E324Q		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	324								p.E324Q(4)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCAGACACTTGAGAGTAACCC	0.463000													23	103					0	0	1	0	0
AMER2	219287	broad.mit.edu	37	13	25743889	25743889	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr13:25743889G>T	ENST00000357816.2	-	3	1987	c.1512C>A	c.(1510-1512)ccC>ccA	p.P504P	AMER2_ENST00000515384.1_Silent_p.P623P|AMER2_ENST00000381853.3_Silent_p.P504P					APC membrane recruitment protein 2									p.P623P(2)|p.P504P(2)									GGTGCACCACGGGATGGCTAG	0.562000													36	92					4.32679e-17	4.8697e-17	1	1	0
PAPSS1	9061	broad.mit.edu	37	4	108552995	108552995	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr4:108552995G>A	ENST00000265174.4	-	11	1800	c.1528C>T	c.(1528-1530)Cgg>Tgg	p.R510W		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	510					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	p.R510W(1)		NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		GCAACCATCCGTGCTCTGCAA	0.418000													5	68					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70352266	70352266	+	Silent	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chrX:70352266C>A	ENST00000333646.6	+	31	4492	c.4293C>A	c.(4291-4293)ctC>ctA	p.L1431L	MED12_ENST00000374102.1_Silent_p.L1431L|MED12_ENST00000478889.1_Intron|MED12_ENST00000374080.3_Silent_p.L1431L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1431					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.L1431L(4)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGGCCCCCCTCATTGCTAAAC	0.557000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						29	44					2.08457e-15	2.32842e-15	1	1	0
PPP6R3	55291	broad.mit.edu	37	11	68377414	68377414	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:68377414A>C	ENST00000393799.2	+	24	2778	c.2511A>C	c.(2509-2511)aaA>aaC	p.K837N	PPP6R3_ENST00000527403.2_Missense_Mutation_p.K796N|PPP6R3_ENST00000524904.1_Missense_Mutation_p.K825N|PPP6R3_ENST00000393801.3_Missense_Mutation_p.K837N|PPP6R3_ENST00000529710.1_Missense_Mutation_p.K751N|PPP6R3_ENST00000265637.4_Missense_Mutation_p.K785N|PPP6R3_ENST00000393800.2_Missense_Mutation_p.K831N|PPP6R3_ENST00000524845.1_Missense_Mutation_p.K802N|PPP6R3_ENST00000534534.1_Missense_Mutation_p.K599N|PPP6R3_ENST00000265636.5_Missense_Mutation_p.K751N			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	831					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	p.K837N(2)|p.K751N(2)		breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTGCTTGTAAAGACGCAGAGG	0.592000													228	427					0	0	1	0	0
NR0B1	190	broad.mit.edu	37	X	30326416	30326416	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chrX:30326416G>A	ENST00000378970.4	-	1	1299	c.1065C>T	c.(1063-1065)gcC>gcT	p.A355A	NR0B1_ENST00000378963.1_Silent_p.A60A|NR0B1_ENST00000453287.1_Silent_p.A355A	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	355	Ligand-binding (By similarity).				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	p.A355A(1)		central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GGACCTGGGAGGCGGAGGGCA	0.632000											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	29					0	0	1	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090800	115090800	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr13:115090800G>A	ENST00000361283.1	+	3	1792	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	495	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	p.E495K(2)									TGTCTTCCCTGAGACCCGAAA	0.493000													42	137					0	0	1	0	0
SULT1B1	27284	broad.mit.edu	37	4	70596267	70596267	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr4:70596267G>A	ENST00000310613.2	-	7	1027	c.730C>T	c.(730-732)Cta>Tta	p.L244L		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	244					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		p.L244L(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GTAGTTGGTAGATGTGTATAA	0.358000													12	167					0	0	1	0	0
OR2W5	441932	broad.mit.edu	37	1	247655162	247655162	+	RNA	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:247655162C>A	ENST00000522351.1	+	0	793							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P245T(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCTCTTCTCACCTCACAGTGG	0.542000													53	194					7.92265e-33	9.26918e-33	1	1	0
BAX	581	broad.mit.edu	37	19	49459574	49459574	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:49459574G>T	ENST00000293288.8	+	4	353	c.353G>T	c.(352-354)aGc>aTc	p.S118I	BAX_ENST00000539787.1_Missense_Mutation_p.S118I|BAX_ENST00000415969.2_Missense_Mutation_p.S118I|BAX_ENST00000345358.7_Missense_Mutation_p.S118I|BAX_ENST00000354470.3_Missense_Mutation_p.S69I|BAX_ENST00000391871.3_3'UTR	NM_004324.3	NP_004315.1	Q07812	BAX_HUMAN	BCL2-associated X protein	118					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity	p.S118I(4)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		TACTTTGCCAGCAAACTGGTG	0.587000													4	13					0.00024832	0.000257904	1	1	0
NLRP13	126204	broad.mit.edu	37	19	56423835	56423835	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:56423835G>C	ENST00000588751.1	-	5	1372	c.1348C>G	c.(1348-1350)Cag>Gag	p.Q450E	NLRP13_ENST00000342929.3_Missense_Mutation_p.Q450E			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	450	NACHT.						ATP binding	p.Q450E(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GTGGTAGTCTGAGTGATTGAC	0.502000													33	162					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33600726	33600726	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:33600726G>T	ENST00000170564.2	+	11	1703	c.1389G>T	c.(1387-1389)agG>agT	p.R463S		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	463						catalytic step 2 spliceosome	nucleic acid binding	p.R463S(2)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TCAAGGCCAGGAGTCTGGCCC	0.542000													20	119					1.28384e-07	1.3719e-07	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51889442	51889442	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr6:51889442G>A	ENST00000371117.3	-	32	5441	c.5166C>T	c.(5164-5166)atC>atT	p.I1722I	PKHD1_ENST00000340994.4_Silent_p.I1722I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1722	IPT/TIG 12; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.I1722I(4)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCCACCCTCTGATGCAGTCAT	0.532000													30	270					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37396655	37396655	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:37396655G>T	ENST00000361924.2	+	22	7014	c.6640G>T	c.(6640-6642)Gaa>Taa	p.E2214*	GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.E2229*|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2214	GRIP.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	p.L2213_E2214>F*(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAAAATTTTGGAAAGAGAAGA	0.383000													39	227					2.22293e-35	2.62147e-35	1	1	0
RPL22	6146	broad.mit.edu	37	1	6253091	6253091	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:6253091G>C	ENST00000234875.4	-	3	179	c.141C>G	c.(139-141)atC>atG	p.I47M	RPL22_ENST00000497965.1_Missense_Mutation_p.I14M|RPL22_ENST00000484532.1_Missense_Mutation_p.I14M	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	47					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome	p.I47M(2)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CGTTCACTTTGATCCTTTCTT	0.438000			T	RUNX1	"""AML, CML"""								8	55					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34145245	34145245	+	Splice_Site	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr15:34145245G>T	ENST00000389232.4	+	95	13698		c.e95-1		RYR3_ENST00000415757.3_Splice_Site|RYR3_ENST00000559917.1_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.?(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGTTTTTCAGATCTTTTCCT	0.383000													9	35					2.52707e-12	2.77042e-12	1	1	0
ZNF597	146434	broad.mit.edu	37	16	3490921	3490921	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr16:3490921A>G	ENST00000301744.4	-	3	281	c.46T>C	c.(46-48)Ttt>Ctt	p.F16L	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	16	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F16L(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						AGATCCTCAAAGAGTATTGGT	0.498000													7	54					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49086776	49086776	+	Silent	SNP	T	T	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chrX:49086776T>A	ENST00000376265.2	-	6	784	c.723A>T	c.(721-723)gcA>gcT	p.A241A	CACNA1F_ENST00000323022.5_Silent_p.A241A|CACNA1F_ENST00000376251.1_Silent_p.A176A	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	241					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.A241A(2)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GCACGAGCAGTGCAATGTGCA	0.557000													5	9					0	0	1	0	0
GTF2I	2969	broad.mit.edu	37	7	74114631	74114631	+	Missense_Mutation	SNP	G	G	A	rs145729076		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:74114631G>A	ENST00000324896.4	+	5	817	c.428G>A	c.(427-429)cGa>cAa	p.R143Q	GTF2I_ENST00000416070.1_Missense_Mutation_p.R143Q|AC083884.8_ENST00000450426.2_RNA|AC083884.8_ENST00000594967.1_RNA|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000346152.4_Missense_Mutation_p.R143Q|GTF2I_ENST00000443166.1_Missense_Mutation_p.R143Q|GTF2I_ENST00000353920.4_Missense_Mutation_p.R143Q	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	143					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R143Q(2)		NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AAGATGCTGCGAGACCAGTCG	0.478000													24	311					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231109762	231109762	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:231109762G>A	ENST00000392045.3	+	6	745	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	SP140_ENST00000486687.2_Missense_Mutation_p.E211K|SP140_ENST00000350136.5_Missense_Mutation_p.E191K|SP140_ENST00000417495.3_Missense_Mutation_p.E211K|SP140_ENST00000420434.3_Missense_Mutation_p.E211K|SP140_ENST00000343805.6_Missense_Mutation_p.E211K	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	211					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E211K(2)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGGAGATGCTGAAGATGCACC	0.448000													26	292					0	0	1	0	0
RPL11	6135	broad.mit.edu	37	1	24021184	24021184	+	Missense_Mutation	SNP	C	C	T	rs11556036		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:24021184C>T	ENST00000374550.3	+	4	344	c.299C>T	c.(298-300)tCa>tTa	p.S100L	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	100					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	p.S100L(2)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		AACAACTTCTCAGATACTGGA	0.438000													8	35					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	145103245	145103245	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr6:145103245C>G	ENST00000367545.3	+	60	8820	c.8820C>G	c.(8818-8820)ctC>ctG	p.L2940L	UTRN_ENST00000367526.4_Silent_p.L495L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2940	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.L2940L(2)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATTGGTTGCTCAATGTCTATG	0.323000													35	59					0	0	1	0	0
GC	2638	broad.mit.edu	37	4	72634141	72634141	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr4:72634141G>T	ENST00000273951.8	-	3	481	c.138C>A	c.(136-138)gtC>gtA	p.V46V	GC_ENST00000513476.1_Silent_p.V46V|GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Silent_p.V65V	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	46	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	p.V65V(2)|p.V46V(2)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TACTGTACAGGACTAGTGACC	0.468000													28	75					5.77227e-19	6.57151e-19	1	1	0
ANAPC1	64682	broad.mit.edu	37	2	112604723	112604723	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:112604723G>C	ENST00000341068.3	-	16	2616	c.1844C>G	c.(1843-1845)tCt>tGt	p.S615C		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	615					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm		p.S615C(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						ACCTAACTCAGAGGTGGCAAT	0.328000													10	104					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99786150	99786150	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:99786150G>A	ENST00000426455.1	+	6	915	c.508G>A	c.(508-510)Gag>Aag	p.E170K	STAG3_ENST00000394018.2_Intron|STAG3_ENST00000317296.5_Missense_Mutation_p.E170K			Q9UJ98	STAG3_HUMAN	stromal antigen 3	170					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	p.E170K(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGTTTAATGAGGTGGAAGA	0.413000													104	549					0	0	1	0	0
CCDC90B	60492	broad.mit.edu	37	11	82985720	82985720	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:82985720C>G	ENST00000529689.1	-	4	822	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	CCDC90B_ENST00000529611.1_Missense_Mutation_p.E29Q|CCDC90B_ENST00000529073.1_Missense_Mutation_p.E130Q|CCDC90B_ENST00000525503.1_Missense_Mutation_p.E29Q|CCDC90B_ENST00000455220.2_Missense_Mutation_p.E121Q			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	130						integral to membrane|mitochondrion		p.E130Q(2)		kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TCACTTTTCTCTAGGATGACC	0.308000													34	68					0	0	1	0	0
MLH1	4292	broad.mit.edu	37	3	37059088	37059088	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:37059088C>T	ENST00000231790.2	+	10	1098	c.882C>T	c.(880-882)ctC>ctT	p.L294L	MLH1_ENST00000435176.1_Silent_p.L196L|MLH1_ENST00000458205.2_Silent_p.L53L|MLH1_ENST00000455445.2_Silent_p.L53L|MLH1_ENST00000539477.1_Silent_p.L53L|MLH1_ENST00000536378.1_Silent_p.L53L	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	294			Missing (in HNPCC2).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.L294L(2)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TCCTGTACCTCAGGTAATGTA	0.418000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				27	88					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41105459	41105459	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:41105459T>G	ENST00000308370.7	+	3	338	c.338T>G	c.(337-339)cTg>cGg	p.L113R	LTBP4_ENST00000204005.9_Missense_Mutation_p.L76R|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_5'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	113					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	p.L113R(2)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGCAGCCACTGACGTGAGTG	0.637000													14	295					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156244470	156244470	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:156244470C>G	ENST00000361813.5	-	5	606	c.462G>C	c.(460-462)aaG>aaC	p.K154N	SMG5_ENST00000368267.4_Missense_Mutation_p.K154N	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	154					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	p.K154N(2)		NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					ACACTGGCTTCTTGCATCCTA	0.473000													22	93					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51261203	51261203	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:51261203G>A	ENST00000395542.2	-	3	513	c.329C>T	c.(328-330)tCa>tTa	p.S110L	COBL_ENST00000395540.2_Missense_Mutation_p.S110L|COBL_ENST00000265136.7_Missense_Mutation_p.S110L|COBL_ENST00000441453.1_Missense_Mutation_p.S110L			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	110								p.S110L(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTGGGTTTCTGAAGACCGAAT	0.423000													22	71					0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46608818	46608818	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:46608818G>A	ENST00000263734.3	+	13	2639	c.2129G>A	c.(2128-2130)cGa>cAa	p.R710Q		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	710					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	p.R710Q(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AAGCTGAAGCGACAGCTGGAG	0.617000													4	51					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51297694	51297694	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:51297694C>T	ENST00000266037.9	+	23	2315	c.2292C>T	c.(2290-2292)ttC>ttT	p.F764F		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	764						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.F764F(1)|p.F753F(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AAGAACTTTTCCAGTCCATCC	0.473000													6	34					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77759506	77759506	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr13:77759506C>G	ENST00000407578.2	-	32	4717	c.4451G>C	c.(4450-4452)gGa>gCa	p.G1484A	MYCBP2_ENST00000357337.6_Missense_Mutation_p.G1446A|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.G1446A	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.G1446A(4)|p.G1484A(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AACTGCTTTTCCTGTAGCTTT	0.323000													87	215					0	0	1	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40821518	40821518	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr17:40821518C>A	ENST00000293349.6	-	12	2556	c.2126G>T	c.(2125-2127)tGc>tTc	p.C709F	PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.C535F|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.C712F			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	712	FERM.				signal transduction	cytoskeleton		p.C712F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CATTAGCTGGCAGGCGGCCAC	0.657000													3	11					1	1	1	1	0
FXR1	8087	broad.mit.edu	37	3	180671582	180671582	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:180671582C>T	ENST00000357559.4	+	9	1218	c.834C>T	c.(832-834)ttC>ttT	p.F278F	FXR1_ENST00000491062.1_Silent_p.F229F|FXR1_ENST00000468861.1_Silent_p.F193F|FXR1_ENST00000480918.1_Silent_p.F265F|FXR1_ENST00000305586.7_Silent_p.F193F|FXR1_ENST00000445140.2_Silent_p.F278F	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	278					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		p.F278F(2)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			CTAGAGGTTTCTTGGAATTTG	0.338000													24	132					0	0	1	0	0
NDUFC2	4718	broad.mit.edu	37	11	77790745	77790745	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:77790745C>T	ENST00000281031.4	-	1	520	c.46G>A	c.(46-48)Gag>Aag	p.E16K	NDUFC2-KCTD14_ENST00000528251.1_Missense_Mutation_p.E16K|NDUFC2_ENST00000525085.1_Missense_Mutation_p.E16K|NDUFC2_ENST00000528164.1_Missense_Mutation_p.E16K|NDUFC2_ENST00000527806.1_Missense_Mutation_p.E16K|NDUFC2-KCTD14_ENST00000530054.1_Missense_Mutation_p.E16K|NDUFC2_ENST00000534029.1_Missense_Mutation_p.E16K	NM_001204055.1|NM_004549.5	NP_001190984.1|NP_004540.1			NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa									p.E16K(1)		large_intestine(1)|lung(2)|prostate(1)	4	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			CTCCGGGCCTCATCCGGCAGA	0.612000													3	36					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39025783	39025783	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:39025783G>C	ENST00000355481.4	+	79	11478	c.11347G>C	c.(11347-11349)Gag>Cag	p.E3783Q	RYR1_ENST00000359596.3_Missense_Mutation_p.E3788Q|RYR1_ENST00000360985.3_Missense_Mutation_p.E3788Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3788					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.E3788Q(2)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCTCCAGGAGAGACAGGTGC	0.557000													15	173					0	0	1	0	0
TSC22D2	9819	broad.mit.edu	37	3	150128747	150128747	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:150128747A>T	ENST00000361875.2	+	1	2626	c.1610A>T	c.(1609-1611)cAg>cTg	p.Q537L	TSC22D2_ENST00000361136.2_Missense_Mutation_p.Q537L	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	537							sequence-specific DNA binding transcription factor activity	p.Q537L(2)		cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CCTCTGGCCCAGTCGCAACAG	0.602000													4	26					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123870875	123870875	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chrX:123870875G>T	ENST00000422452.2	-	4	771	c.708C>A	c.(706-708)acC>acA	p.T236T	TENM1_ENST00000371130.3_Silent_p.T236T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.T238T(2)									CCTGCGTGCTGGTTGGGGGAG	0.557000													44	258					6.27289e-28	7.28147e-28	1	1	0
MYNN	55892	broad.mit.edu	37	3	169498415	169498415	+	Silent	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:169498415A>G	ENST00000349841.5	+	4	1761	c.1098A>G	c.(1096-1098)ggA>ggG	p.G366G	MYNN_ENST00000392733.1_Silent_p.G366G|MYNN_ENST00000544106.1_Silent_p.G366G|MYNN_ENST00000356716.4_Silent_p.G366G	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	366						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G366G(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			GTGATAAAGGATTTGCTCAGA	0.328000													3	28					0	0	1	0	0
ERI3	79033	broad.mit.edu	37	1	44785335	44785335	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:44785335C>T	ENST00000372257.2	-	4	752	c.571G>A	c.(571-573)Gta>Ata	p.V191I	ERI3_ENST00000372259.5_Missense_Mutation_p.V76I|ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000537474.1_Missense_Mutation_p.V14I	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	191	Exonuclease.					intracellular	exonuclease activity|metal ion binding|nucleic acid binding	p.V191I(2)		endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGATGGACTACAGGCTGGACA	0.517000													14	134					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65476147	65476147	+	Silent	SNP	T	T	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chrX:65476147T>A	ENST00000519389.1	+	17	3212	c.3033T>A	c.(3031-3033)acT>acA	p.T1011T	HEPH_ENST00000419594.1_Silent_p.T768T|HEPH_ENST00000374727.3_Silent_p.T960T|HEPH_ENST00000441993.2_Silent_p.T960T|HEPH_ENST00000343002.2_Silent_p.T957T|HEPH_ENST00000336279.5_Silent_p.T690T			Q9BQS7	HEPH_HUMAN	hephaestin	957	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.T957T(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGGATGAAACTTTCTTGGAGA	0.398000													10	128					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43893319	43893319	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:43893319C>T	ENST00000562955.1	+	25	3546	c.3546C>T	c.(3544-3546)gtC>gtT	p.V1182V	SZT2_ENST00000372442.1_Silent_p.V340V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1239						peroxisome		p.V340V(4)|p.V1182V(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGTGTCCTGTCTACATCTACA	0.602000													6	133					0	0	1	0	0
TICAM1	148022	broad.mit.edu	37	19	4817852	4817852	+	Missense_Mutation	SNP	G	G	A	rs141394423	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:4817852G>A	ENST00000248244.5	-	2	767	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	180					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|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|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity	p.R180C(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TCAATGGGGCGTGGGAGGCTC	0.647000													4	45					0	0	1	0	0
ASNS	440	broad.mit.edu	37	7	97486051	97486051	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:97486051G>A	ENST00000175506.4	-	9	1509	c.981C>T	c.(979-981)gtC>gtT	p.V327V	ASNS_ENST00000437628.1_Silent_p.V244V|ASNS_ENST00000444334.1_Silent_p.V306V|ASNS_ENST00000394308.3_Silent_p.V327V|ASNS_ENST00000455086.1_Silent_p.V244V|ASNS_ENST00000394309.3_Silent_p.V327V|ASNS_ENST00000422745.1_Silent_p.V306V	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	327	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	p.V327V(2)		ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGGAAAATATGACTTCATCCA	0.318000													7	98					0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148596502	148596502	+	Silent	SNP	T	T	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:148596502T>C	ENST00000296046.3	+	5	493	c.441T>C	c.(439-441)tcT>tcC	p.S147S	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	147					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	p.S147S(2)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AAATTGGATCTACTGTTGAAG	0.299000													44	160					0	0	1	0	0
DHRS9	10170	broad.mit.edu	37	2	169938312	169938312	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:169938312C>T	ENST00000327239.4	+	5	1725	c.221C>T	c.(220-222)tCa>tTa	p.S74L	DHRS9_ENST00000602501.1_Missense_Mutation_p.S74L|DHRS9_ENST00000432060.2_Missense_Mutation_p.S134L|DHRS9_ENST00000428522.1_Missense_Mutation_p.S74L|DHRS9_ENST00000357546.2_Missense_Mutation_p.S74L|DHRS9_ENST00000436483.2_Missense_Mutation_p.S74L|DHRS9_ENST00000412271.1_Missense_Mutation_p.S74L|DHRS9_ENST00000421653.1_5'UTR	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	74					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity	p.S74L(2)		breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GCAGAAACCTCAGAGAGACTT	0.468000													13	141					0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50192686	50192686	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr22:50192686G>A	ENST00000216267.8	-	3	2092	c.1606C>T	c.(1606-1608)Cgc>Tgc	p.R536C	BRD1_ENST00000342989.5_Missense_Mutation_p.R131C|BRD1_ENST00000404034.1_Missense_Mutation_p.R536C|BRD1_ENST00000457780.2_Missense_Mutation_p.R536C|BRD1_ENST00000404760.1_Missense_Mutation_p.R536C|BRD1_ENST00000542442.1_Missense_Mutation_p.R229C	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	536					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	p.R536C(2)|p.R131C(2)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ATCAGCAGGCGAGCGCGCTCC	0.622000													4	20					0	0	1	0	0
RGPD8	727851	broad.mit.edu	37	2	113190977	113190977	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:113190977G>A	ENST00000302558.3	-	1	245	c.54C>T	c.(52-54)ctC>ctT	p.L18L	RGPD8_ENST00000330575.5_Silent_p.L18L|RGPD8_ENST00000409750.1_Intron	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.L18L(2)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GCGACGGGGTGAGACCCAGCA	0.751000													10	10					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27535600	27535600	+	RNA	SNP	T	T	C	rs640284	by1000genomes	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr10:27535600T>C	ENST00000574842.1	+	0	255																											CACAGGTCAATTGCACATGGG	0.517000													6	157					0	0	1	0	0
TBC1D31	93594	broad.mit.edu	37	8	124146378	124146378	+	Missense_Mutation	SNP	G	G	A	rs144947635	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr8:124146378G>A	ENST00000287380.1	+	17	2521	c.2431G>A	c.(2431-2433)Gct>Act	p.A811T	TBC1D31_ENST00000521676.1_Missense_Mutation_p.A688T|TBC1D31_ENST00000309336.3_Missense_Mutation_p.A811T|TBC1D31_ENST00000378080.2_3'UTR|TBC1D31_ENST00000327098.5_Intron|TBC1D31_ENST00000518805.1_Missense_Mutation_p.A365T|TBC1D31_ENST00000522420.1_Missense_Mutation_p.A706T	NM_145647.3	NP_663622.2			TBC1 domain family, member 31									p.A811T(2)									TCGAGAAATTGCTGCCACAGC	0.318000													15	159					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112672	248112672	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:248112672G>T	ENST00000357191.3	+	1	513	c.513G>T	c.(511-513)agG>agT	p.R171S	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R171S(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GCCGATCCAGGGCCATCAATC	0.483000													116	563					3.88875e-62	4.69824e-62	1	1	0
PHKB	5257	broad.mit.edu	37	16	47723058	47723058	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr16:47723058G>C	ENST00000455779.1	+	28	2901	c.2716G>C	c.(2716-2718)Gat>Cat	p.D906H	PHKB_ENST00000299167.8_Missense_Mutation_p.D913H|PHKB_ENST00000566044.1_Missense_Mutation_p.D906H|PHKB_ENST00000323584.5_Missense_Mutation_p.D913H			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	913					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	p.D913H(4)|p.D906H(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GCTTCTGCTGGATATTCTGCA	0.428000													20	91					0	0	1	0	0
EVI5	7813	broad.mit.edu	37	1	93159385	93159385	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:93159385G>A	ENST00000370331.1	-	9	1212	c.1203C>T	c.(1201-1203)gtC>gtT	p.V401V	EVI5_ENST00000540033.1_Silent_p.V401V|EVI5_ENST00000543509.1_Silent_p.V401V	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	401	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	p.V401V(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		AATTGTATTTGACTTGGTAAG	0.308000													55	254					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79793823	79793823	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr4:79793823C>T	ENST00000335016.5	+	13	1830	c.1664C>T	c.(1663-1665)cCg>cTg	p.P555L	BMP2K_ENST00000502871.1_Missense_Mutation_p.P555L	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	555	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity	p.P555L(4)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						CAACATCAGCCGTCTCAACAA	0.443000													12	86					0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70133583	70133583	+	Translation_Start_Site	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr12:70133583G>A	ENST00000550536.1	+	0	414				RAB3IP_ENST00000483530.2_Intron|RAB3IP_ENST00000247833.7_Intron|RAB3IP_ENST00000325555.9_Intron|RAB3IP_ENST00000362025.5_De_novo_Start_OutOfFrame|RAB3IP_ENST00000378815.6_Intron	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein						cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CAGAAGTGATGATGCTGGGTG	0.547000													3	21					0	0	1	0	0
GCAT	23464	broad.mit.edu	37	22	38211697	38211697	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr22:38211697T>C	ENST00000323205.6	+	7	983	c.920T>C	c.(919-921)cTg>cCg	p.L307P	GCAT_ENST00000248924.6_Missense_Mutation_p.L281P	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	281					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.L281P(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CCTGGGCCCCTGGTGTCCCTG	0.652000													5	26					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121463465	121463465	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr8:121463465G>C	ENST00000305949.1	+	4	373	c.328G>C	c.(328-330)Gaa>Caa	p.E110Q		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	110					cell cycle arrest			p.E110Q(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AGATAAAATTGAAGATGTTCT	0.308000													30	91					0	0	1	0	0
LNPEP	4012	broad.mit.edu	37	5	96350700	96350700	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:96350700G>A	ENST00000231368.5	+	13	2969	c.2277G>A	c.(2275-2277)gaG>gaA	p.E759E	LNPEP_ENST00000395770.3_Silent_p.E745E	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	759					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.E759E(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TTGGAAATGAGAACCATACTG	0.433000													50	220					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58580600	58580600	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr16:58580600C>T	ENST00000317147.5	-	28	4136	c.3804G>A	c.(3802-3804)gaG>gaA	p.E1268E	CNOT1_ENST00000245138.4_Silent_p.E119E|CNOT1_ENST00000569240.1_Silent_p.E1263E|CNOT1_ENST00000441024.2_Silent_p.E1268E	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1268					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.E1268E(4)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCTGATGTAGCTCAGCTAATA	0.388000													28	163					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29972752	29972752	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chrX:29972752G>C	ENST00000378993.1	+	10	1988	c.1315G>C	c.(1315-1317)Gaa>Caa	p.E439Q	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.E439Q	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	439	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.E439Q(4)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGATATGCTTGAAAAGCATTA	0.373000													35	49					0	0	1	0	0
DENND1B	163486	broad.mit.edu	37	1	197576259	197576259	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:197576259C>G	ENST00000235453.4	-	13	1052	c.775G>C	c.(775-777)Gat>Cat	p.D259H	DENND1B_ENST00000400967.2_Missense_Mutation_p.D259H|DENND1B_ENST00000367396.3_Missense_Mutation_p.D289H			Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	289	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	p.D289H(2)|p.D259H(2)		NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						GTGTTTGTATCAACATTTAAC	0.294000													17	72					0	0	1	0	0
LOC101927905	101927905	broad.mit.edu	37	12	8388289	8388289	+	RNA	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr12:8388289G>A	ENST00000304751.9	+	0	279				FAM86FP_ENST00000427893.2_RNA														p.I124I(1)									CGTGAGAGATGATGGCTGTGC	0.592000													6	145					0	0	1	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062972	76062972	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:76062972G>A	ENST00000260045.3	-	5	1327	c.1222C>T	c.(1222-1224)Ctt>Ttt	p.L408F		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	408					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	p.L408F(2)		cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TTCTGAAAAAGAACAGAAATT	0.383000													21	35					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54914904	54914904	+	Splice_Site	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr12:54914904A>G	ENST00000293373.6	+	18	1839	c.1758_splice	c.e18-1	p.Y587_splice	NCKAP1L_ENST00000545638.2_Splice_Site_p.Y537_splice	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	587					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	p.Y587C(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TTCCCATAGTACCCCCACCTC	0.517000													29	120					0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151138818	151138818	+	Missense_Mutation	SNP	T	T	C	rs61730039	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chrX:151138818T>C	ENST00000370325.1	-	2	166	c.113A>G	c.(112-114)tAt>tGt	p.Y38C	GABRE_ENST00000370328.3_Missense_Mutation_p.Y38C|GABRE_ENST00000393914.3_5'UTR			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	38					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.Y38C(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGGGCCATAGACAACATC	0.512000													6	107					0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247920842	247920842	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:247920842G>T	ENST00000408896.2	-	1	1140	c.867C>A	c.(865-867)atC>atA	p.I289I		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I289I(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TTAGGGTATAGATGAAAGGAT	0.458000													96	326					1.51934e-53	1.82815e-53	1	1	0
ST6GALNAC3	256435	broad.mit.edu	37	1	77094490	77094490	+	Nonstop_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:77094490G>C	ENST00000328299.3	+	5	1065	c.917G>C	c.(916-918)tGa>tCa	p.*306S		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	0					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.*306S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ACATTGTCTTGATAATGGTTT	0.398000													61	246					0	0	1	0	0
CLPB	81570	broad.mit.edu	37	11	72145149	72145149	+	Missense_Mutation	SNP	C	C	A	rs139361195		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:72145149C>A	ENST00000294053.3	-	1	543	c.370G>T	c.(370-372)Gtt>Ttt	p.V124F	CLPB_ENST00000543042.1_Intron|CLPB_ENST00000542555.1_5'UTR|CLPB_ENST00000445069.2_Intron|CLPB_ENST00000437826.2_Missense_Mutation_p.G43V|CLPB_ENST00000538039.1_Missense_Mutation_p.V124F|CLPB_ENST00000340729.5_Missense_Mutation_p.V124F	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	124					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TAGCAATGAACCACCAGCGCT	0.582000											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	165					0.00307968	0.00315427	1	1	0
SLC38A11	151258	broad.mit.edu	37	2	165755217	165755217	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:165755217G>T	ENST00000303735.4	-	10	1215	c.885C>A	c.(883-885)ctC>ctA	p.L295L	SLC38A11_ENST00000409149.3_Silent_p.L317L|SLC38A11_ENST00000409058.1_Silent_p.L348L|SLC38A11_ENST00000409662.1_Silent_p.L317L	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	317					amino acid transport|sodium ion transport	integral to membrane		p.L295L(2)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TGATAAAAATGAGGGGAGTTG	0.408000													11	116					5.50884e-06	5.8029e-06	1	1	0
CETN3	1070	broad.mit.edu	37	5	89695226	89695226	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:89695226C>A	ENST00000283122.3	-	4	533	c.409G>T	c.(409-411)Gaa>Taa	p.E137*	CETN3_ENST00000522864.1_Intron|CETN3_ENST00000522565.1_Nonsense_Mutation_p.E137*|CETN3_ENST00000522083.1_Nonsense_Mutation_p.E137*	NM_004365.2	NP_004356.2	O15182	CETN3_HUMAN	centrin, EF-hand protein, 3	137	EF-hand 4.				cell division|centrosome cycle|mitosis	centriole	calcium ion binding	p.E137*(2)		lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		CGAAGTTCTTCATCACTCATG	0.358000													82	298					1.53667e-21	1.76301e-21	1	1	0
TACC2	10579	broad.mit.edu	37	10	123970013	123970013	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr10:123970013G>C	ENST00000369005.1	+	9	6413	c.6073G>C	c.(6073-6075)Gat>Cat	p.D2025H	TACC2_ENST00000453444.2_Missense_Mutation_p.D2029H|TACC2_ENST00000513429.1_Missense_Mutation_p.D171H|TACC2_ENST00000260733.3_Missense_Mutation_p.D103H|TACC2_ENST00000369004.3_Missense_Mutation_p.D103H|TACC2_ENST00000515273.1_Missense_Mutation_p.D2029H|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000334433.3_Missense_Mutation_p.D2025H|TACC2_ENST00000368999.1_Missense_Mutation_p.D103H|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000358010.1_Missense_Mutation_p.D171H|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000515603.1_Missense_Mutation_p.D1980H|TACC2_ENST00000360561.3_Missense_Mutation_p.D103H	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2025						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.D2025H(2)|p.D2025N(1)		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)				TGCCGTCTTCGATGAAGACAA	0.552000													13	35					0	0	1	0	0
GPR35	2859	broad.mit.edu	37	2	241570284	241570284	+	Silent	SNP	C	C	T	rs142918765	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:241570284C>T	ENST00000319838.5	+	6	1857	c.915C>T	c.(913-915)tgC>tgT	p.C305C	GPR35_ENST00000438013.2_Silent_p.C336C|GPR35_ENST00000407714.1_Silent_p.C305C|GPR35_ENST00000403859.1_Silent_p.C305C|GPR35_ENST00000430267.1_Silent_p.C305C	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	305						integral to plasma membrane	G-protein coupled receptor activity	p.C305C(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		ACTCTCTGTGCGTGACCCTCG	0.642000													3	18					0	0	1	0	0
ARMC6	93436	broad.mit.edu	37	19	19154841	19154841	+	Silent	SNP	C	C	T	rs143674751	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:19154841C>T	ENST00000535612.1	+	4	669	c.237C>T	c.(235-237)gtC>gtT	p.V79V	ARMC6_ENST00000392336.3_Silent_p.V79V|ARMC6_ENST00000546344.1_Intron|ARMC6_ENST00000269932.6_Silent_p.V54V|ARMC6_ENST00000392335.2_Silent_p.V54V	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	79							protein binding	p.V79V(1)|p.V54V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CACCTAAAGTCTCTGCAGACG	0.572000													3	28					0	0	1	0	0
TMEM8C	389827	broad.mit.edu	37	9	136380685	136380685	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr9:136380685G>T	ENST00000339996.3	-	4	545	c.444C>A	c.(442-444)agC>agA	p.S148R	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	148						integral to membrane		p.S148R(2)		NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						GGGTGTAGACGCTCTTGTCTG	0.597000													14	31					6.72482e-11	7.31819e-11	1	1	0
TEX264	51368	broad.mit.edu	37	3	51718530	51718530	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:51718530C>T	ENST00000415259.1	+	3	1441	c.360C>T	c.(358-360)ttC>ttT	p.F120F	TEX264_ENST00000341333.5_Silent_p.F120F|TEX264_ENST00000416589.1_Silent_p.F120F|TEX264_ENST00000463857.1_3'UTR|TEX264_ENST00000457573.1_Silent_p.F120F|TEX264_ENST00000395057.1_Silent_p.F120F			Q9Y6I9	TX264_HUMAN	testis expressed 264	120						extracellular region		p.F120F(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		AATTTGGCTTCAAGGTGTTCT	0.592000													9	28					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110476724	110476724	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr8:110476724G>A	ENST00000378402.5	+	49	7767	c.7663G>A	c.(7663-7665)Gat>Aat	p.D2555N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2555					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.D2557N(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTTCTGAATGATGATGTGAC	0.443000										HNSCC(38;0.096)			27	137					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158489689	158489689	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr6:158489689C>T	ENST00000355585.4	+	13	1803	c.1728C>T	c.(1726-1728)agC>agT	p.S576S	SYNJ2_ENST00000367122.2_Silent_p.S576S|SYNJ2_ENST00000367121.3_Silent_p.S576S	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	576							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.S576S(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ATGACAGCAGCCCAGCTGACA	0.572000													3	42					0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14507264	14507264	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:14507264G>C	ENST00000242786.5	+	5	537	c.457G>C	c.(457-459)Gag>Cag	p.E153Q	CD97_ENST00000587728.1_Intron|CD97_ENST00000357355.3_Missense_Mutation_p.E153Q|CD97_ENST00000358600.3_Intron	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	153	EGF-like 3; calcium-binding (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.E153Q(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GTTCATACCTGAGGATCCGAA	0.597000													13	22					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1807188	1807188	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:1807188G>A	ENST00000539485.1	-	6	827	c.594C>T	c.(592-594)acC>acT	p.T198T	ATP8B3_ENST00000526092.1_Silent_p.T145T|ATP8B3_ENST00000525591.1_Silent_p.T145T|ATP8B3_ENST00000310127.6_Silent_p.T198T			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	198					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.T198T(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGTCCCGGGTGGCACGGA	0.652000													4	19					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25420074	25420074	+	RNA	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr15:25420074G>A	ENST00000441592.2	+	0	179				SNORD115-3_ENST00000363100.1_RNA																							GCCCTGGGTTGGGTCAATGAT	0.512000													20	88					0	0	1	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67854848	67854848	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr16:67854848G>T	ENST00000388833.3	+	3	469	c.92G>T	c.(91-93)cGa>cTa	p.R31L	TSNAXIP1_ENST00000562321.1_Intron|TSNAXIP1_ENST00000415766.3_Intron|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.R85L	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	31					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		p.R31L(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TACCGGAAGCGAGTAGGGTAA	0.597000													18	73					2.48551e-13	2.74518e-13	1	1	0
BCAS3	54828	broad.mit.edu	37	17	58946004	58946004	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr17:58946004C>G	ENST00000589222.1	+	8	612	c.544C>G	c.(544-546)Caa>Gaa	p.Q182E	BCAS3_ENST00000408905.3_Missense_Mutation_p.Q182E|BCAS3_ENST00000390652.5_Missense_Mutation_p.Q182E|BCAS3_ENST00000407086.3_Missense_Mutation_p.Q182E|BCAS3_ENST00000588462.1_Missense_Mutation_p.Q182E			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	182						nucleus		p.Q182E(2)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CAAGTCCATTCAATTTAAGAC	0.373000													22	91					0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242271010	242271010	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:242271010G>T	ENST00000442594.2	-	9	1435	c.926C>A	c.(925-927)gCg>gAg	p.A309E	PLD5_ENST00000427495.1_Missense_Mutation_p.A339E|PLD5_ENST00000536534.1_Missense_Mutation_p.A401E	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	401						integral to membrane	catalytic activity	p.A309E(2)|p.A401E(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AGTGCAAATCGCTTTAAGAGA	0.368000													75	269					2.43199e-30	2.83413e-30	1	1	0
NPPA	4878	broad.mit.edu	37	1	11907671	11907671	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:11907671C>G	ENST00000376480.3	-	1	169	c.71G>C	c.(70-72)aGa>aCa	p.R24T	NPPA-AS1_ENST00000400892.2_RNA|NPPA_ENST00000376476.1_Intron|NPPA-AS1_ENST00000446542.1_RNA	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	24					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity	p.R24T(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGATTAGCTCTGGTCTGACC	0.562000													15	68					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453193	140453193	+	Splice_Site	SNP	T	T	C	rs121913370		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:140453193T>C	ENST00000288602.6	-	15	1802	c.1741_splice	c.e15-1	p.N581_splice		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	581	Protein kinase.		N -> D (in CFC syndrome).|N -> S (in a colorectal adenocarcinoma sample; somatic mutation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.N581S(9)|p.N581I(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	AAGAAATATATCTGAGGTGTA	0.358000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				38	64					0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27389919	27389919	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:27389919G>A	ENST00000379214.4	-	18	2794	c.2351C>T	c.(2350-2352)tCt>tTt	p.S784F	LGR4_ENST00000389858.4_Missense_Mutation_p.S760F	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	784						integral to membrane|plasma membrane	protein-hormone receptor activity	p.S784F(2)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CAGAGTAACAGACTTCATTAT	0.403000													12	65					0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7045360	7045360	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr12:7045360C>G	ENST00000356654.4	+	5	1167	c.930C>G	c.(928-930)ctC>ctG	p.L310L	ATN1_ENST00000396684.2_Silent_p.L310L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	310					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	p.L310L(2)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGAGACCCCTCAACAATGCAT	0.637000													10	91					0	0	1	0	0
COG3	83548	broad.mit.edu	37	13	46056606	46056606	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr13:46056606C>T	ENST00000349995.5	+	6	827	c.715C>T	c.(715-717)Cat>Tat	p.H239Y		NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	239					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity	p.H239Y(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		TATCTCATCTCATGTAAGTCA	0.328000													3	21					0	0	1	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46120223	46120223	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:46120223C>T	ENST00000355105.3	-	6	1829	c.469G>A	c.(469-471)Gag>Aag	p.E157K	GPBP1L1_ENST00000290795.3_Missense_Mutation_p.E157K	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.E157K(2)	GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					ACAAAGTCCTCCTCTTCAAAC	0.388000													16	153					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810208	106810208	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:106810208G>A	ENST00000526355.1	-	4	1652	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.S395F|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.S395F	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	395					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.S395F(2)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TTCAGAGCCAGAAGCCTCAGG	0.438000													40	330					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215919366	215919366	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:215919366T>A	ENST00000272895.7	-	4	559	c.340A>T	c.(340-342)Aac>Tac	p.N114Y		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	114					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.N114Y(2)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTATCCAGGTTGGATGACTTT	0.393000													53	388					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768409	31768409	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:31768409C>A	ENST00000240587.4	-	2	2617	c.2290G>T	c.(2290-2292)Gcc>Tcc	p.A764S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	764					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A581S(2)|p.A764S(2)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGCGGGGTGGCCACAGCAGCC	0.602000													18	166					6.12954e-19	6.9515e-19	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48349715	48349715	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:48349715G>C	ENST00000435803.1	+	24	9517	c.9493G>C	c.(9493-9495)Gat>Cat	p.D3165H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3165					transport	integral to membrane	ATP binding|ATPase activity	p.D3165H(2)|p.D3110H(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCGAAACTTGGATGTGCGAGC	0.502000													52	388					0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53624648	53624648	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr13:53624648G>T	ENST00000219022.2	+	5	1353	c.1275G>T	c.(1273-1275)caG>caT	p.Q425H		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	425	Olfactomedin-like.				cell adhesion	extracellular space		p.Q425H(2)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ATACCAAGCAGTATAAACCAT	0.408000													20	133					7.33628e-21	8.38432e-21	1	1	0
PLCL1	5334	broad.mit.edu	37	2	198949863	198949863	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:198949863G>T	ENST00000428675.1	+	2	2020	c.1622G>T	c.(1621-1623)gGa>gTa	p.G541V	PLCL1_ENST00000437704.2_Missense_Mutation_p.G443V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	541	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.G541V(2)|p.G443V(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATTGTGAAAGGAAAGAAGTTG	0.388000													9	131					0.000442599	0.000456479	1	1	0
NIPAL4	348938	broad.mit.edu	37	5	156899773	156899773	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:156899773C>G	ENST00000311946.7	+	6	1322	c.1206C>G	c.(1204-1206)ttC>ttG	p.F402L	NIPAL4_ENST00000435489.2_Missense_Mutation_p.F383L|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	402						integral to membrane	receptor activity	p.F340L(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						TGGGCGTGTTCATGCTGCATG	0.547000													23	74					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211542708	211542708	+	Nonstop_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:211542708A>G	ENST00000233072.5	+	38	4698	c.4502A>G	c.(4501-4503)tAg>tGg	p.*1501W	CPS1_ENST00000430249.2_Nonstop_Mutation_p.*1507W|CPS1_ENST00000451903.2_Nonstop_Mutation_p.*1050W	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	0					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.*1501W(2)|p.*1507W(2)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AAAGCAGCATAGAGATGCAGA	0.433000													114	343					0	0	1	0	0
ELOVL5	60481	broad.mit.edu	37	6	53156718	53156718	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr6:53156718G>A	ENST00000542638.1	-	3	549	c.102C>T	c.(100-102)ccC>ccT	p.P34P	ELOVL5_ENST00000541407.1_Silent_p.P34P|ELOVL5_ENST00000486973.1_5'UTR|ELOVL5_ENST00000370918.4_Silent_p.P34P|ELOVL5_ENST00000304434.6_Silent_p.P34P			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	34					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	p.P34P(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					AGATAAATGTGGGTATATAAT	0.318000													7	55					0	0	1	0	0
KIN	22944	broad.mit.edu	37	10	7820880	7820880	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr10:7820880T>A	ENST00000379562.3	-	5	526	c.479A>T	c.(478-480)aAg>aTg	p.K160M	KIN_ENST00000535925.1_Missense_Mutation_p.K160M|KIN_ENST00000543003.1_Missense_Mutation_p.K54M			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	160					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding	p.K160M(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AAGGTCCTGCTTTTTCTTTTT	0.453000													30	235					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26771546	26771546	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr22:26771546G>A	ENST00000529632.2	+	14	2996	c.2800G>A	c.(2800-2802)Gaa>Aaa	p.E934K	SEZ6L_ENST00000404234.3_Missense_Mutation_p.E944K|SEZ6L_ENST00000403121.1_Missense_Mutation_p.E641K|SEZ6L_ENST00000411842.2_Intron|SEZ6L_ENST00000402979.1_Missense_Mutation_p.E717K|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.E870K|SEZ6L_ENST00000248933.6_Missense_Mutation_p.E945K|SEZ6L_ENST00000343706.4_Missense_Mutation_p.E869K	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	945						endoplasmic reticulum membrane|integral to membrane		p.E945K(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TTCAGTAGCAGAAGCGGCAGC	0.572000													15	40					0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19553224	19553224	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr16:19553224G>C	ENST00000396212.2	+	7	2501	c.2065G>C	c.(2065-2067)Gag>Cag	p.E689Q	CCP110_ENST00000396208.2_Missense_Mutation_p.E689Q|CCP110_ENST00000381396.5_Missense_Mutation_p.E689Q	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	689					centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	p.E689Q(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						AGAAGAGCAGGAGAAAATGTT	0.348000													15	91					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70351937	70351937	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chrX:70351937C>G	ENST00000333646.6	+	30	4333	c.4134C>G	c.(4132-4134)ctC>ctG	p.L1378L	MED12_ENST00000374102.1_Silent_p.L1378L|MED12_ENST00000478889.1_Intron|MED12_ENST00000374080.3_Silent_p.L1378L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1378					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.L1378L(4)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGAACTCCCTCTTGGAGAACA	0.512000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						52	104					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185169074	185169074	+	Splice_Site	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:185169074G>A	ENST00000265026.3	+	7	1503		c.e7-1		MAP3K13_ENST00000446828.1_Splice_Site|MAP3K13_ENST00000424227.1_Splice_Site|MAP3K13_ENST00000443863.1_Splice_Site|MAP3K13_ENST00000535426.1_Splice_Site	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13						activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	p.?(4)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TTCACTTTTAGGCAGAGTAAA	0.383000													33	89					0	0	1	0	0
DSTN	11034	broad.mit.edu	37	20	17581487	17581487	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr20:17581487C>T	ENST00000246069.6	+	2	454	c.108C>T	c.(106-108)gtC>gtT	p.V36V	DSTN_ENST00000543261.1_Silent_p.V19V|DSTN_ENST00000474024.1_3'UTR	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	36	ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding	p.V36V(2)		endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AGAAGGCTGTCATTTTTTGTC	0.393000													14	51					0	0	1	0	0
PCMTD2	55251	broad.mit.edu	37	20	62896764	62896764	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr20:62896764C>T	ENST00000308824.6	+	4	691	c.564C>T	c.(562-564)gtC>gtT	p.V188V	PCMTD2_ENST00000299468.7_Silent_p.V188V|PCMTD2_ENST00000369758.3_Silent_p.V188V	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	188						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	p.V188V(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGATCCTTGTCATGCCACTGG	0.468000													28	119					0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66358453	66358453	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:66358453C>T	ENST00000333861.3	-	1	2101	c.2034G>A	c.(2032-2034)ctG>ctA	p.L678L		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	678								p.L678L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TCTGCAGGCTCAGAATTTTGT	0.532000													5	8					0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158549566	158549566	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:158549566A>T	ENST00000368150.1	-	1	123	c.124T>A	c.(124-126)Ttt>Att	p.F42I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F42I(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ACAAAAAGAAATGTCTGTACA	0.418000													62	230					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113246694	113246694	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr8:113246694C>A	ENST00000297405.5	-	68	10884	c.10640G>T	c.(10639-10641)aGc>aTc	p.S3547I	CSMD3_ENST00000352409.3_Missense_Mutation_p.S3477I|CSMD3_ENST00000455883.2_Missense_Mutation_p.S3378I|CSMD3_ENST00000343508.3_Missense_Mutation_p.S3507I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3547						integral to membrane|plasma membrane		p.S3547I(2)|p.S3507I(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGCTTCCTGGCTTTTATATAC	0.323000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			23	168					1.16021e-09	1.25336e-09	1	1	0
ZNF546	339327	broad.mit.edu	37	19	40519640	40519640	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:40519640C>G	ENST00000347077.4	+	7	679	c.463C>G	c.(463-465)Caa>Gaa	p.Q155E	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.Q129E	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q155E(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTATTTATCTCAATTGCAGAC	0.313000													14	159					0	0	1	0	0
ZNF668	79759	broad.mit.edu	37	16	31073109	31073109	+	Silent	SNP	C	C	T	rs144972780	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr16:31073109C>T	ENST00000538906.1	-	3	1924	c.1140G>A	c.(1138-1140)acG>acA	p.T380T	ZNF668_ENST00000394983.2_Silent_p.T380T|ZNF668_ENST00000300849.4_Silent_p.T380T|ZNF668_ENST00000417110.2_Silent_p.F99F|ZNF668_ENST00000535577.1_Silent_p.T380T|ZNF668_ENST00000426488.2_Silent_p.T403T|ZNF668_ENST00000539836.3_Silent_p.T403T	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T380T(2)|p.T403T(2)		breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GGCTATGCTTCGTGAGGCTGG	0.672000													17	166					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121680889	121680889	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:121680889C>G	ENST00000393386.2	+	21	6068	c.5657C>G	c.(5656-5658)cCc>cGc	p.P1886R	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.P1019R	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1886	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.P1886R(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AAAGGAAGACCCAGTGGACGT	0.512000													31	117					0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:97869931A>T	ENST00000420699.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289000													3	40					0	0	1	0	0
FRMD8	83786	broad.mit.edu	37	11	65154527	65154527	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:65154527G>T	ENST00000317568.5	+	2	183	c.20G>T	c.(19-21)aGt>aTt	p.S7I	FRMD8_ENST00000355991.5_Missense_Mutation_p.S7I|FRMD8_ENST00000416776.2_Missense_Mutation_p.S7I|FRMD8_ENST00000531296.1_Missense_Mutation_p.S7I	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	7						cytoskeleton	binding	p.S7I(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						ACAGAAGGCAGTGCCGGGCAG	0.657000													13	29					4.93089e-13	5.42581e-13	1	1	0
SLC39A12	221074	broad.mit.edu	37	10	18292133	18292133	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr10:18292133C>G	ENST00000377369.2	+	12	2066	c.1793C>G	c.(1792-1794)tCt>tGt	p.S598C	SLC39A12_ENST00000539911.1_Missense_Mutation_p.S464C|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S561C|SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S597C|SLC39A12-AS1_ENST00000445287.1_RNA	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	598					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.S561C(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCTGGACTTTCTATGAAGACT	0.408000													23	137					0	0	1	0	0
FAM86C1	55199	broad.mit.edu	37	11	71507261	71507261	+	Missense_Mutation	SNP	A	A	G	rs111708284	by1000genomes	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:71507261A>G	ENST00000528685.1	+	3	358	c.358A>G	c.(358-360)Aca>Gca	p.T120A	FAM86C1_ENST00000346333.6_Intron|FAM86C1_ENST00000359244.4_Intron|FAM86C1_ENST00000426628.2_Intron			Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	0										lung(1)	1						AGCTGTCCCTACAGGACTCCA	0.627000													8	43					0	0	1	0	0
CCDC146	57639	broad.mit.edu	37	7	76889471	76889471	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:76889471G>C	ENST00000285871.4	+	8	1031	c.904G>C	c.(904-906)Gaa>Caa	p.E302Q	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Missense_Mutation_p.E48Q	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	302								p.E302Q(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AGCCTTACTTGAAATCAAAGA	0.348000													68	139					0	0	1	0	0
MOCS3	27304	broad.mit.edu	37	20	49575979	49575979	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr20:49575979C>T	ENST00000244051.1	+	1	617	c.600C>T	c.(598-600)ctC>ctT	p.L200L		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	200					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	p.L200L(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						GTCGGCCCCTCGTGTCTGCCA	0.602000													10	46					0	0	1	0	0
C16orf45	89927	broad.mit.edu	37	16	15677017	15677017	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr16:15677017C>A	ENST00000300006.4	+	5	783	c.424C>A	c.(424-426)Caa>Aaa	p.Q142K	C16orf45_ENST00000452191.2_Missense_Mutation_p.Q125K|C16orf45_ENST00000566490.1_Intron|C16orf45_ENST00000561692.1_Missense_Mutation_p.Q94K|C16orf45_ENST00000565913.1_3'UTR	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	142								p.Q142K(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						TCACAGGGAGCAAGAAGAAGA	0.378000													33	238					3.61848e-18	4.08805e-18	1	1	0
IGSF22	283284	broad.mit.edu	37	11	18735942	18735942	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:18735942C>T	ENST00000513874.1	-	13	1819	c.1680G>A	c.(1678-1680)caG>caA	p.Q560Q	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	560								p.Q560Q(4)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GCTTCACAATCTGCATGCCTG	0.597000													8	64					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222842	140222842	+	Missense_Mutation	SNP	C	C	T	rs146582216		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:140222842C>T	ENST00000531613.1	+	1	1936	c.1936C>T	c.(1936-1938)Cgt>Tgt	p.R646C	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R646C|PCDHA1_ENST00000504120.2_Intron	NM_018911.2	NP_061734.1												p.R646C(4)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGCGCCACCGTCTGCTGGT	0.662000													13	164					0	0	1	0	0
TRIM7	81786	broad.mit.edu	37	5	180622504	180622504	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:180622504C>G	ENST00000393315.1	-	7	1271	c.574G>C	c.(574-576)Gag>Cag	p.E192Q	TRIM7_ENST00000274773.7_Missense_Mutation_p.E400Q|TRIM7_ENST00000422067.2_Missense_Mutation_p.E192Q|TRIM7_ENST00000393319.3_Missense_Mutation_p.E218Q|TRIM7_ENST00000504241.1_5'UTR|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000361809.3_Missense_Mutation_p.E192Q	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	400						cytoplasm|nucleus	zinc ion binding	p.E400Q(2)		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)		ACCTCCACCTCCCAGTGATGC	0.716000													4	12					0	0	1	0	0
GDAP2	54834	broad.mit.edu	37	1	118420645	118420645	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:118420645C>T	ENST00000369443.4	-	13	1681	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	GDAP2_ENST00000369442.3_Missense_Mutation_p.E478K	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	478	CRAL-TRIO.							p.E478K(2)		kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		GCATCATATTCAAGGACAAAA	0.453000													15	139					0	0	1	0	0
C2orf47	79568	broad.mit.edu	37	2	200824033	200824033	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:200824033G>C	ENST00000295079.2	+	3	815	c.493G>C	c.(493-495)Gat>Cat	p.D165H	C2orf47_ENST00000392290.1_Missense_Mutation_p.D165H|C2orf47_ENST00000469156.1_3'UTR	NM_024520.2	NP_078796.2	Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	165						mitochondrion		p.D165H(2)		cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						GTGTAAATTTGATCTGTTGGA	0.323000													8	59					0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107845160	107845160	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr4:107845160T>C	ENST00000285311.3	-	4	1436	c.731A>G	c.(730-732)gAt>gGt	p.D244G	DKK2_ENST00000510463.1_Missense_Mutation_p.D198G|DKK2_ENST00000513208.1_Missense_Mutation_p.D144G	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	244	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		p.D244G(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GTAGGTGGCATCTTTCCATAC	0.458000													36	326					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61538783	61538783	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:61538783G>C	ENST00000398571.2	-	27	3785	c.3709C>G	c.(3709-3711)Ctt>Gtt	p.L1237V		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1237					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.L1237V(2)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCAGCCCTAAGATCTGCTACC	0.353000													8	83					0	0	1	0	0
LOC148709	148709	broad.mit.edu	37	1	202843429	202843429	+	RNA	SNP	G	G	C	rs3795589	by1000genomes	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:202843429G>C	ENST00000456105.2	+	0	1381					NR_002929.2																						TCAAGCCCCTGCATCACCCAC	0.507000													5	17					0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32844370	32844370	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:32844370C>G	ENST00000311921.3	+	2	826	c.634C>G	c.(634-636)Cca>Gca	p.P212A	ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Missense_Mutation_p.P212A|ZNF507_ENST00000544431.1_Missense_Mutation_p.P212A	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P212A(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TGAAACCATTCCAGATATCCC	0.453000													26	129					0	0	1	0	0
GARS	2617	broad.mit.edu	37	7	30661020	30661020	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:30661020G>A	ENST00000389266.3	+	11	1612	c.1371G>A	c.(1369-1371)gaG>gaA	p.E457E		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	457					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	p.E457E(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GTTGGATTGAGATTGTTGGAT	0.368000													48	235					0	0	1	0	0
POLK	51426	broad.mit.edu	37	5	74880722	74880722	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:74880722C>T	ENST00000241436.4	+	9	1369	c.1197C>T	c.(1195-1197)tcC>tcT	p.S399S	POLK_ENST00000506928.1_3'UTR|POLK_ENST00000504026.1_Silent_p.S399S|POLK_ENST00000508526.1_Intron|POLK_ENST00000515295.1_Silent_p.S399S|POLK_ENST00000380481.3_Silent_p.S309S|POLK_ENST00000352007.5_Intron	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	399					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	p.S399S(4)		endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TTCATATCTCCTTGGGTCTAG	0.388000								DNA polymerases (catalytic subunits)					10	190					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2807567	2807567	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr16:2807567G>A	ENST00000301740.8	+	3	886	c.337G>A	c.(337-339)Ggg>Agg	p.G113R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	113						Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	p.G113R(1)		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						GGAGACCCCAGGGCAGAGGCC	0.567000													15	100					0	0	1	0	0
UBAP2	55833	broad.mit.edu	37	9	33963754	33963754	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr9:33963754G>C	ENST00000379238.1	-	9	832	c.715C>G	c.(715-717)Ctg>Gtg	p.L239V	UBAP2_ENST00000418786.2_Missense_Mutation_p.L186V|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000449054.1_Missense_Mutation_p.L239V|UBAP2_ENST00000379239.4_De_novo_Start_InFrame|UBAP2_ENST00000360802.1_Missense_Mutation_p.L239V			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	239								p.L239V(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TTGTTTGACAGATCCTGAGCT	0.284000													12	104					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240497523	240497523	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:240497523T>G	ENST00000319653.9	+	13	4989	c.4759T>G	c.(4759-4761)Ttg>Gtg	p.L1587V	FMN2_ENST00000545751.1_Missense_Mutation_p.L183V	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1587	FH2.				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	p.L1730V(2)		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)			GAAGAAAGACTTGAAAGGTAA	0.353000													19	314					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33581687	33581687	+	Splice_Site	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:33581687A>G	ENST00000170564.2	+	3	524	c.208_splice	c.e3-1	p.G70_splice		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	70						catalytic step 2 spliceosome	nucleic acid binding	p.G70G(2)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TTTTTTCAGGATGGACACCCT	0.373000													5	78					0	0	1	0	0
LGALS9	3965	broad.mit.edu	37	17	25967714	25967714	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr17:25967714G>T	ENST00000395473.2	+	3	1716	c.248G>T	c.(247-249)gGg>gTg	p.G83V	LGALS9_ENST00000302228.5_Missense_Mutation_p.G83V|LGALS9_ENST00000310394.5_Missense_Mutation_p.G83V|LGALS9_ENST00000448970.2_3'UTR|LGALS9_ENST00000313648.6_Missense_Mutation_p.G83V|LGALS9_ENST00000413914.2_Missense_Mutation_p.G26V|AC015688.3_ENST00000584605.1_3'UTR	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	83	Beta-galactoside binding 1.|Galectin 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	p.G83V(2)		endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GGAAGCTGGGGGCCCGAGGAG	0.547000													40	110					1.19451e-25	1.37578e-25	1	1	0
LRRC4C	57689	broad.mit.edu	37	11	40137225	40137225	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:40137225C>A	ENST00000278198.2	-	2	2581	c.618G>T	c.(616-618)atG>atT	p.M206I	LRRC4C_ENST00000527150.1_Missense_Mutation_p.M206I|LRRC4C_ENST00000530763.1_Missense_Mutation_p.M206I|LRRC4C_ENST00000528697.1_Missense_Mutation_p.M206I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	206					regulation of axonogenesis	integral to membrane	protein binding	p.M206I(2)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAAGGTTGCACATGGCAAGGT	0.463000													12	95					0.000219431	0.000229511	1	1	0
CD59	966	broad.mit.edu	37	11	33743968	33743968	+	Silent	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:33743968G>C	ENST00000395850.3	-	2	99	c.24C>G	c.(22-24)gtC>gtG	p.V8V	CD59_ENST00000445143.2_Silent_p.V8V|CD59_ENST00000426650.2_Silent_p.V8V|CD59_ENST00000527577.1_Silent_p.V8V|CD59_ENST00000534312.1_Silent_p.V8V|CD59_ENST00000437761.2_Silent_p.V8V|CD59_ENST00000415002.2_Silent_p.V8V|CD59_ENST00000533403.1_Silent_p.V8V|CD59_ENST00000351554.3_Silent_p.V8V|CD59_ENST00000528700.1_Silent_p.V8V	NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2	NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1	P13987	CD59_HUMAN	CD59 molecule, complement regulatory protein	8					blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction		p.V8V(2)		endometrium(1)|lung(2)	3						GCCCGAACAGGACAGACCCTC	0.537000													16	70					0	0	1	0	0
IWS1	55677	broad.mit.edu	37	2	128263325	128263325	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:128263325C>A	ENST00000295321.4	-	3	413	c.154G>T	c.(154-156)Gaa>Taa	p.E52*	IWS1_ENST00000486662.1_5'UTR|IWS1_ENST00000455721.2_Nonsense_Mutation_p.E59*|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	52					transcription, DNA-dependent	nucleus	DNA binding	p.E52*(2)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TCACTAGTTTCATTCTGAAAA	0.308000													11	71					0.00829132	0.00843378	1	1	0
ACTN2	88	broad.mit.edu	37	1	236908017	236908017	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:236908017C>G	ENST00000366578.4	+	12	1513	c.1347C>G	c.(1345-1347)agC>agG	p.S449R	ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.S449R	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	449					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	p.S449R(2)		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)			CGTTCGAGAGCGACCTGGCAG	0.642000													21	53					0	0	1	0	0
SBSN	374897	broad.mit.edu	37	19	36017721	36017721	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:36017721C>A	ENST00000452271.2	-	1	1491	c.1463G>T	c.(1462-1464)gGg>gTg	p.G488V	SBSN_ENST00000518157.1_Missense_Mutation_p.G145V	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	145						extracellular region		p.G488V(2)|p.G145V(2)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGCTTCCTTCCCAGCCTGGTG	0.597000													9	56					1.58986e-06	1.68674e-06	1	1	0
MCTP1	79772	broad.mit.edu	37	5	94248517	94248517	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:94248517C>G	ENST00000515393.1	-	9	1514	c.1515G>C	c.(1513-1515)aaG>aaC	p.K505N	MCTP1_ENST00000505078.1_Missense_Mutation_p.K21N|MCTP1_ENST00000429576.2_Missense_Mutation_p.K238N|MCTP1_ENST00000312216.8_Missense_Mutation_p.K284N|MCTP1_ENST00000505208.1_Missense_Mutation_p.K284N	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	505	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.K505N(2)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTACCTTGCTCTTGTACTTCT	0.458000													35	165					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	416901	416901	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr12:416901G>A	ENST00000399788.2	-	23	4011	c.3649C>T	c.(3649-3651)Cgg>Tgg	p.R1217W	KDM5A_ENST00000382815.4_Missense_Mutation_p.R1217W	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1217					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1217W(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CTTCGAGACCGCATACAAAGA	0.483000			T	NUP98	AML								5	101					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068944	9068944	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:9068944C>G	ENST00000397910.4	-	3	18705	c.18502G>C	c.(18502-18504)Ggc>Cgc	p.G6168R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6170	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G6168R(4)|p.G1801R(2)		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						GTCAGTTGGCCAAGAGATGTC	0.488000													73	204					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38790666	38790666	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr6:38790666G>T	ENST00000359357.3	+	25	3179	c.2925G>T	c.(2923-2925)ggG>ggT	p.G975G	DNAH8_ENST00000441566.1_Silent_p.G975G|DNAH8_ENST00000449981.2_Silent_p.G1192G					dynein, axonemal, heavy chain 8									p.G975G(4)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTACCCGGGGGTAGCGGAGC	0.413000													4	32					0.00909568	0.00922028	1	1	0
CCDC60	160777	broad.mit.edu	37	12	119916949	119916949	+	Missense_Mutation	SNP	G	G	A	rs144234053		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr12:119916949G>A	ENST00000327554.2	+	4	857	c.392G>A	c.(391-393)cGc>cAc	p.R131H	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	131								p.R131H(3)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GTCACACGTCGCCCATTCACT	0.473000													42	316					0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114438396	114438396	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:114438396G>T	ENST00000369569.1	-	9	2055	c.1775C>A	c.(1774-1776)tCa>tAa	p.S592*	AP4B1_ENST00000256658.4_Nonsense_Mutation_p.S592*|AP4B1_ENST00000369567.1_Nonsense_Mutation_p.S424*|AP4B1_ENST00000462591.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	592					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	p.S592*(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCAAAGGATGAAGTTTTAGG	0.443000													22	115					1.64293e-13	1.82138e-13	1	1	0
HOXB1	3211	broad.mit.edu	37	17	46608134	46608134	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr17:46608134C>T	ENST00000239174.6	-	1	225	c.133G>A	c.(133-135)Gag>Aag	p.E45K	HOXB1_ENST00000577092.1_Missense_Mutation_p.E45K	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	45						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	p.E45K(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TAGCGGCCCTCGCTTGCATAG	0.682000													13	46					0	0	1	0	0
EML2	24139	broad.mit.edu	37	19	46116895	46116895	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:46116895G>C	ENST00000536630.1	-	21	2307	c.2169C>G	c.(2167-2169)atC>atG	p.I723M	EML2_ENST00000589876.1_Missense_Mutation_p.I576M|EML2_ENST00000587152.1_Missense_Mutation_p.I777M|EML2_ENST00000245925.3_Missense_Mutation_p.I576M	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	576					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	p.I576M(2)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CCACAGCGTTGATATCAGTGC	0.567000													6	115					0	0	1	0	0
PTBP3	9991	broad.mit.edu	37	9	115024748	115024748	+	Silent	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr9:115024748G>C	ENST00000334318.6	-	6	762	c.576C>G	c.(574-576)ctC>ctG	p.L192L	PTBP3_ENST00000374257.1_Silent_p.L161L|PTBP3_ENST00000374255.2_Silent_p.L189L|PTBP3_ENST00000343327.2_Silent_p.L94L|PTBP3_ENST00000458258.1_Silent_p.L195L|PTBP3_ENST00000487997.1_5'UTR	NM_001163790.2|NM_005156.6	NP_001157262.1|NP_005147.3	O95758	ROD1_HUMAN	polypyrimidine tract binding protein 3	189	RRM 2.				anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding	p.L189L(2)									CAGGGTAAAAGAGGTTTTCAA	0.433000													32	121					0	0	1	0	0
PREPL	9581	broad.mit.edu	37	2	44569580	44569580	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:44569580C>T	ENST00000541738.1	-	5	847	c.461G>A	c.(460-462)cGc>cAc	p.R154H	PREPL_ENST00000409957.1_Missense_Mutation_p.R154H|PREPL_ENST00000410081.1_Missense_Mutation_p.R243H|PREPL_ENST00000378511.3_Missense_Mutation_p.R243H|PREPL_ENST00000409936.1_Missense_Mutation_p.R243H|PREPL_ENST00000409411.1_Missense_Mutation_p.R154H|PREPL_ENST00000378520.3_Missense_Mutation_p.R243H|PREPL_ENST00000409272.1_Missense_Mutation_p.R243H|PREPL_ENST00000260648.6_Missense_Mutation_p.R243H	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	243					proteolysis	cytosol	serine-type endopeptidase activity	p.R243H(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGTGTAAAAGCGTTCATTACG	0.378000													39	105					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37396654	37396654	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:37396654G>T	ENST00000361924.2	+	22	7013	c.6639G>T	c.(6637-6639)ttG>ttT	p.L2213F	GOLGA4_ENST00000356847.4_Missense_Mutation_p.L2228F|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2213	GRIP.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	p.L2213_E2214>F*(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGAAAATTTTGGAAAGAGAAG	0.388000													39	230					1.0096e-33	1.18588e-33	1	1	0
MACF1	23499	broad.mit.edu	37	1	39797800	39797800	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:39797800C>T	ENST00000564288.1	+	37	6317	c.5540C>T	c.(5539-5541)tCa>tTa	p.S1847L	MACF1_ENST00000567887.1_Missense_Mutation_p.S1884L|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S287L|MACF1_ENST00000372915.3_Missense_Mutation_p.S1852L|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1852					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.S287L(2)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCCTCTGGTCATTCATGGGG	0.463000													47	174					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78583831	78583831	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr12:78583831G>T	ENST00000397909.2	+	34	6296	c.6123G>T	c.(6121-6123)agG>agT	p.R2041S	NAV3_ENST00000266692.7_Missense_Mutation_p.R1842S|NAV3_ENST00000228327.6_Missense_Mutation_p.R2019S|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000536525.2_Missense_Mutation_p.R2019S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2041						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.R2019S(2)		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						TTACCCAAAGGTACTTTAACT	0.348000										HNSCC(70;0.22)			17	229					1.33834e-09	1.44054e-09	1	1	0
OR6T1	219874	broad.mit.edu	37	11	123814524	123814524	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:123814524G>A	ENST00000321252.2	-	1	56	c.22C>T	c.(22-24)Cag>Tag	p.Q8*		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q8*(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		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;0.0401)		CTTGTTACCTGAGTCCAGTTT	0.463000													10	316					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1133330	1133330	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:1133330C>T	ENST00000308624.5	+	5	477	c.348C>T	c.(346-348)ttC>ttT	p.F116F	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	116	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	p.F116F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GGATGTTGTTCGTAGGAGATG	0.378000													5	65					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98497313	98497313	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:98497313G>A	ENST00000359863.4	+	10	932	c.723G>A	c.(721-723)ctG>ctA	p.L241L	TRRAP_ENST00000446306.3_Silent_p.L241L|TRRAP_ENST00000355540.3_Silent_p.L241L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	241					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.L241L(4)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCTACAAACTGAACATCCACA	0.443000													67	147					0	0	1	0	0
RUFY1	80230	broad.mit.edu	37	5	178996340	178996340	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:178996340G>A	ENST00000377001.2	+	5	742	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	RUFY1_ENST00000393438.2_Missense_Mutation_p.E140K|RUFY1_ENST00000437570.2_Missense_Mutation_p.E140K|RUFY1_ENST00000319449.4_Missense_Mutation_p.E248K			Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	248	RUN.				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	p.E140K(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGGAGGAAGAAGGGATGGT	0.478000										HNSCC(44;0.11)			24	219					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45267266	45267266	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:45267266T>A	ENST00000303230.4	-	7	1765	c.1708A>T	c.(1708-1710)Aac>Tac	p.N570Y		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	570						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.N570Y(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGGACCTCGTTGAAATTGTCC	0.433000													11	233					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181480642	181480642	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:181480642A>G	ENST00000526775.1	+	3	673	c.508A>G	c.(508-510)Agt>Ggt	p.S170G	CACNA1E_ENST00000357570.5_Missense_Mutation_p.S121G|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S121G|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S170G|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S170G|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S170G|CACNA1E_ENST00000367567.4_5'UTR	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	170					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.S170G(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGTGGTCCTCAGTGGGTAAGT	0.522000													54	247					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	166958699	166958699	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:166958699C>T	ENST00000392766.2	-	21	2625	c.2285G>A	c.(2284-2286)gGa>gAa	p.G762E	ZBBX_ENST00000392764.1_Missense_Mutation_p.G733E|ZBBX_ENST00000307529.5_Missense_Mutation_p.G801E|ZBBX_ENST00000392767.2_Missense_Mutation_p.G762E|ZBBX_ENST00000455345.2_Missense_Mutation_p.G801E	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	762						intracellular	zinc ion binding	p.G801E(2)|p.G762E(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GGTATCTCTTCCAGAACAGCT	0.378000													28	125					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90857737	90857737	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr4:90857737C>A	ENST00000394980.1	+	7	3225	c.2906C>A	c.(2905-2907)cCa>cAa	p.P969Q	MMRN1_ENST00000264790.2_Missense_Mutation_p.P969Q|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.P711Q			Q13201	MMRN1_HUMAN	multimerin 1	969					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.P969Q(2)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTTGTGGAACCAATAATTCAA	0.383000													4	43					0.150653	0.151678	1	1	0
TTC23	64927	broad.mit.edu	37	15	99696503	99696503	+	Splice_Site	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr15:99696503C>T	ENST00000394132.2	-	12	1811		c.e12-1		TTC23_ENST00000558613.1_Splice_Site|TTC23_ENST00000394130.1_Splice_Site|TTC23_ENST00000394129.2_Splice_Site|TTC23_ENST00000558663.1_Splice_Site|TTC23_ENST00000394136.1_Splice_Site|TTC23_ENST00000394135.3_Splice_Site|TTC23_ENST00000262074.4_Splice_Site			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23								binding	p.?(2)		endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			AGGTTGCTCTCTGTGAAAGGA	0.488000													20	57					0	0	1	0	0
KLHL15	80311	broad.mit.edu	37	X	24006555	24006555	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chrX:24006555C>G	ENST00000328046.8	-	4	1553	c.1298G>C	c.(1297-1299)gGa>gCa	p.G433A		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	433								p.G433A(2)		autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						TGAGGTGATTCCACCGGTGAT	0.453000													66	101					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18430067	18430067	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr8:18430067G>A	ENST00000440756.2	-	14	2863	c.2761C>T	c.(2761-2763)Ctg>Ttg	p.L921L	PSD3_ENST00000523619.1_Silent_p.L854L|PSD3_ENST00000327040.8_Silent_p.L919L|PSD3_ENST00000286485.8_Silent_p.L385L|PSD3_ENST00000428502.2_Silent_p.L248L			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	920					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.L921L(2)|p.L385L(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GTGGCAGGCAGAAGTGGGCGG	0.408000													40	180					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	146997641	146997641	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:146997641G>C	ENST00000265272.5	-	19	2646	c.2179C>G	c.(2179-2181)Cta>Gta	p.L727V	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.L706V|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.L685V	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	727						Golgi apparatus		p.L727V(2)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTGCTGTAGAGCATTGTAC	0.408000													71	296					0	0	1	0	0
UQCRQ	27089	broad.mit.edu	37	5	132203218	132203218	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:132203218G>C	ENST00000378670.3	+	3	334	c.193G>C	c.(193-195)Gaa>Caa	p.E65Q	UQCRQ_ENST00000378665.1_Missense_Mutation_p.E65Q|UQCRQ_ENST00000378667.1_Missense_Mutation_p.E65Q|UQCRQ_ENST00000496429.1_3'UTR	NM_014402.4	NP_055217.2	O14949	QCR8_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa	65					respiratory electron transport chain	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity	p.E65Q(2)		lung(3)	3		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGGGGGACTGAAGAGTTCGA	0.388000													7	34					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152295239	152295239	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:152295239G>A	ENST00000243326.4	+	13	2008	c.1525G>A	c.(1525-1527)Gtg>Atg	p.V509M	RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000430328.2_Missense_Mutation_p.V509M|RIF1_ENST00000428287.2_Missense_Mutation_p.V509M|RIF1_ENST00000453091.2_Missense_Mutation_p.V509M|RIF1_ENST00000444746.2_Missense_Mutation_p.V509M			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	509					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	p.V509M(2)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AATTAGCTTGGTGAAGTCAGT	0.348000													18	53					0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127420138	127420138	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:127420138C>T	ENST00000262461.2	+	1	681	c.492C>T	c.(490-492)gtC>gtT	p.V164V	SLC12A2_ENST00000343225.4_Silent_p.V164V	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	164					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	p.V164V(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGGTCGGAGTCGACGGGCCCA	0.701000													5	6					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55703100	55703100	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:55703100G>A	ENST00000376350.3	-	11	2289	c.2267C>T	c.(2266-2268)gCc>gTc	p.A756V	PTPRH_ENST00000263434.5_Missense_Mutation_p.A578V	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	756					apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.A756V(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AAAGGCTCCGGCAATGACCCC	0.602000													3	34					0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133099400	133099400	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:133099400G>A	ENST00000515826.1	+	3	968	c.845G>A	c.(844-846)aGa>aAa	p.R282K	TMEM108_ENST00000321871.6_Missense_Mutation_p.R282K|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.R282K			Q6UXF1	TM108_HUMAN	transmembrane protein 108	282						integral to membrane		p.R282K(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCCTTCGCAGAGCAGCCCAG	0.647000													5	38					0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187149394	187149394	+	Silent	SNP	T	T	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr4:187149394T>A	ENST00000264690.6	+	2	232	c.45T>A	c.(43-45)gcT>gcA	p.A15A	KLKB1_ENST00000513864.1_Silent_p.A15A	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	15					blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	p.A15A(4)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CCTTGTTTGCTACAGTTTCCT	0.353000													4	43					0	0	1	0	0
CETN1	1068	broad.mit.edu	37	18	580703	580703	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr18:580703G>A	ENST00000327228.3	+	1	337	c.295G>A	c.(295-297)Gag>Aag	p.E99K		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	99	EF-hand 2.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	p.E99K(2)		breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GAAGATGTCCGAGAAGGACAC	0.507000													4	86					0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56183268	56183268	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:56183268C>G	ENST00000399503.3	+	18	4178	c.4178C>G	c.(4177-4179)gCc>gGc	p.A1393G		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1393	Protein kinase.				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	p.A1230G(2)|p.A1393G(2)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GGAGCTGCAGCCAGGTTGGCA	0.443000													34	227					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940551	144940551	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr8:144940551C>T	ENST00000525985.1	-	2	6942	c.6871G>A	c.(6871-6873)Gtg>Atg	p.V2291M				P58107	EPIPL_HUMAN	epiplakin 1	2291						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.V2291M(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCGCCCACCACGCCCGCGGCC	0.721000													4	6					0	0	1	0	0
ISG20L2	81875	broad.mit.edu	37	1	156697208	156697208	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:156697208C>A	ENST00000313146.6	-	1	1019	c.237G>T	c.(235-237)aaG>aaT	p.K79N	ISG20L2_ENST00000368219.1_Missense_Mutation_p.K79N	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	79					ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding	p.K79N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGCTGTCTTCTTTTTTGGGA	0.522000											OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	31					0.004672	0.00476866	1	1	0
SLC1A2	6506	broad.mit.edu	37	11	35302424	35302424	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:35302424C>T	ENST00000278379.3	-	9	1693	c.1411G>A	c.(1411-1413)Gac>Aac	p.D471N	SLC1A2_ENST00000395750.1_Missense_Mutation_p.D462N|SLC1A2_ENST00000479543.1_5'UTR|SLC1A2_ENST00000395753.1_Missense_Mutation_p.D462N|SLC1A2_ENST00000606205.1_Missense_Mutation_p.D471N	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	471					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.D471N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	AGCAGCCAGTCCACAGCCACC	0.602000													11	319					0	0	1	0	0
C12orf56	115749	broad.mit.edu	37	12	64678484	64678484	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr12:64678484C>G	ENST00000543942.2	-	8	1896	c.1270G>C	c.(1270-1272)Gaa>Caa	p.E424Q	C12orf56_ENST00000536975.1_5'UTR|C12orf56_ENST00000333722.5_Missense_Mutation_p.E264Q|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	427								p.E264Q(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		GACTCGGTTTCTGTTTCTCTG	0.373000													22	70					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179605502	179605502	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:179605502T>A	ENST00000589042.1	-	48	12682	c.12458A>T	c.(12457-12459)cAg>cTg	p.Q4153L	TTN_ENST00000460472.2_Missense_Mutation_p.Q3790L|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q3836L|TTN_ENST00000342175.6_Missense_Mutation_p.Q3982L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q3915L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3836							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Q3915L(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTACAATCTGCAGCTGTAG	0.458000													71	177					0	0	1	0	0
GPR183	1880	broad.mit.edu	37	13	99947431	99947431	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr13:99947431C>G	ENST00000376414.4	-	2	1052	c.969G>C	c.(967-969)ctG>ctC	p.L323L	UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	323					humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.L323L(2)		cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						CTTGCCGTTTCAGCATCCTCA	0.408000													36	136					0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151138777	151138777	+	Missense_Mutation	SNP	C	C	T	rs61730040	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chrX:151138777C>T	ENST00000370325.1	-	2	207	c.154G>A	c.(154-156)Gag>Aag	p.E52K	GABRE_ENST00000370328.3_Missense_Mutation_p.E52K|GABRE_ENST00000393914.3_5'UTR			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	52					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.E52K(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGTTTCCTCAGAGAGGAGC	0.507000													6	114					0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24756942	24756942	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:24756942C>A	ENST00000545231.1	-	7	1286	c.136G>T	c.(136-138)Gag>Tag	p.E46*	DFNA5_ENST00000419307.1_Nonsense_Mutation_p.E46*|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409775.3_Nonsense_Mutation_p.E210*|DFNA5_ENST00000409970.1_Nonsense_Mutation_p.E46*|DFNA5_ENST00000342947.3_Nonsense_Mutation_p.E210*			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	210					sensory perception of sound			p.E210*(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GCTGGGATCTCCAGCACCACG	0.587000													22	75					4.59853e-10	4.98595e-10	1	1	0
CENPT	80152	broad.mit.edu	37	16	67865073	67865073	+	Missense_Mutation	SNP	G	G	A	rs8052287	by1000genomes	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr16:67865073G>A	ENST00000445712.2	-	6	686	c.440C>T	c.(439-441)cCg>cTg	p.P147L	CENPT_ENST00000219172.3_Intron|CENPT_ENST00000562947.1_Intron|CENPT_ENST00000562787.1_Intron|CENPT_ENST00000440851.2_Intron|CENPT_ENST00000564817.1_Intron			Q96BT3	CENPT_HUMAN	centromere protein T	0					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CTGTCATAGCGGGGAGAGCTT	0.562000													4	68					0	0	1	0	0
OR7A5	26659	broad.mit.edu	37	19	14938176	14938176	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:14938176C>A	ENST00000322301.3	-	2	965	c.878G>T	c.(877-879)aGg>aTg	p.R293M	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.R293M			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293M(2)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GTCTTTATTCCTCAGACTATA	0.468000													62	120					1.12357e-39	1.33031e-39	1	1	0
CLCA2	9635	broad.mit.edu	37	1	86920813	86920813	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:86920813A>G	ENST00000370565.4	+	14	2597	c.2435A>G	c.(2434-2436)cAa>cGa	p.Q812R		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	812					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CAGAATATCCAAGATGACTTT	0.318000													4	72					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48563896	48563896	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:48563896G>A	ENST00000435803.1	+	54	14128	c.14104G>A	c.(14104-14106)Gaa>Aaa	p.E4702K	ABCA13_ENST00000544596.1_Missense_Mutation_p.E432K	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4702					transport	integral to membrane	ATP binding|ATPase activity	p.E4647K(2)|p.E4702K(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TACAGATGTTGAAAAAGAGGA	0.383000													16	82					0	0	1	0	0
TTC8	123016	broad.mit.edu	37	14	89338775	89338775	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr14:89338775G>A	ENST00000338104.6	+	13	1426	c.1374G>A	c.(1372-1374)atG>atA	p.M458I	TTC8_ENST00000358622.5_Missense_Mutation_p.M244I|TTC8_ENST00000345383.5_Missense_Mutation_p.M432I|TTC8_ENST00000536576.1_Missense_Mutation_p.M203I|TTC8_ENST00000354441.6_Missense_Mutation_p.M177I|TTC8_ENST00000380656.2_Missense_Mutation_p.M442I|TTC8_ENST00000346301.4_Missense_Mutation_p.M402I			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	468					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	p.M442I(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGCTGGAGATGCGGAAGGGCC	0.532000													87	264					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248403046	248403046	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:248403046G>C	ENST00000306687.1	+	1	816	c.816G>C	c.(814-816)aaG>aaC	p.K272N		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K272N(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACCAGGACAAGATGGTGTCGG	0.502000													32	238					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82763878	82763878	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:82763878C>T	ENST00000423517.2	-	3	3325	c.2988G>A	c.(2986-2988)gtG>gtA	p.V996V	PCLO_ENST00000333891.8_Silent_p.V996V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	942					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.V996V(4)|p.V942V(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTCCTTTTTCACAGGTATAC	0.468000													13	41					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180044335	180044335	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:180044335G>A	ENST00000367607.3	+	28	6164	c.5746G>A	c.(5746-5748)Gac>Aac	p.D1916N		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1916						centrosome|nucleus|spindle		p.D1916N(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGAACTGGAGGACCAGAGAAC	0.333000													5	33					0	0	1	0	0
TYRO3	7301	broad.mit.edu	37	15	41865997	41865997	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr15:41865997G>C	ENST00000263798.3	+	18	2490	c.2266G>C	c.(2266-2268)Gag>Cag	p.E756Q	TYRO3_ENST00000559066.1_Missense_Mutation_p.E711Q	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	756	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.E756Q(2)|p.E748Q(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAGCCTCCGGAGTGTATGGA	0.552000													16	23					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813279	106813279	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr8:106813279G>A	ENST00000407775.2	+	8	1219	c.969G>A	c.(967-969)gtG>gtA	p.V323V	ZFPM2_ENST00000378472.4_Silent_p.V54V|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.V191V|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.V191V|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	323					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.V323V(2)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTCTAGGAGTGAAAATGGAAG	0.418000													44	179					0	0	1	0	0
TRA2A	29896	broad.mit.edu	37	7	23571409	23571409	+	Splice_Site	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:23571409C>G	ENST00000297071.4	-	1	251	c.36_splice	c.e1+1	p.R12_splice	TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	12					nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding	p.R12T(2)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TGTACTCACTCTGCCCTCGAA	0.612000													14	39					0	0	1	0	0
DDX27	55661	broad.mit.edu	37	20	47839551	47839551	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr20:47839551G>C	ENST00000371764.4	+	3	400	c.391G>C	c.(391-393)Gag>Cag	p.E131Q	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	131	Asp/Glu/Lys-rich.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.E131Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AAGGAAAACAGAGGTGAGAAG	0.423000													7	34					0	0	1	0	0
DNAJC1	64215	broad.mit.edu	37	10	22048380	22048380	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr10:22048380C>T	ENST00000376980.3	-	11	1605	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N		NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	439					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	p.D439N(2)		cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				GGCCGGGCATCAGTGGCCCCG	0.662000													5	36					0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107416977	107416977	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:107416977C>T	ENST00000340010.5	-	15	1781	c.1597G>A	c.(1597-1599)Gaa>Aaa	p.E533K	SLC26A3_ENST00000422236.2_Missense_Mutation_p.E498K	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	533	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.E533K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTCACTCCTTCTGGCTCATAC	0.378000													11	195					0	0	1	0	0
ULBP3	79465	broad.mit.edu	37	6	150385794	150385794	+	Silent	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr6:150385794G>C	ENST00000367339.1	-	4	712	c.684C>G	c.(682-684)ctC>ctG	p.L228L	ULBP3_ENST00000438272.2_Silent_p.L228L			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	228					antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity	p.L228L(2)		central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		TCCAGGGACTGAGGGTGGTGG	0.527000													4	36					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55546020	55546020	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:55546020C>T	ENST00000436346.1	-	19	4124	c.3283G>A	c.(3283-3285)Gaa>Aaa	p.E1095K	AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E1094K|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E1094K|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E1095K	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1095					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	p.E1094K(2)|p.E1095K(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTATTCTGTTCTTGTAATGAC	0.368000													42	136					0	0	1	0	0
C11orf70	85016	broad.mit.edu	37	11	101953881	101953881	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:101953881G>A	ENST00000434758.2	+	7	783	c.755G>A	c.(754-756)cGt>cAt	p.R252H		NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	252								p.R214H(2)		breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		CCTATCAGGCGTCACCTTCAT	0.343000													67	190					0	0	1	0	0
UVRAG	7405	broad.mit.edu	37	11	75852254	75852254	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:75852254G>A	ENST00000356136.3	+	15	2138	c.1897G>A	c.(1897-1899)Gaa>Aaa	p.E633K	UVRAG_ENST00000538870.1_Missense_Mutation_p.E189K|UVRAG_ENST00000539288.1_Missense_Mutation_p.E261K|UVRAG_ENST00000531818.1_Missense_Mutation_p.E261K|UVRAG_ENST00000533454.1_Missense_Mutation_p.E261K|UVRAG_ENST00000532130.1_Missense_Mutation_p.E261K|UVRAG_ENST00000528420.1_Missense_Mutation_p.E532K	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	633					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	p.E633K(2)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GGAGCAAGCAGAAGAAATCAT	0.567000													10	45					0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30418929	30418929	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr20:30418929T>C	ENST00000375994.2	+	9	1682	c.1409T>C	c.(1408-1410)gTg>gCg	p.V470A	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.V470A			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	470	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	p.V470A(2)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGTATGGGGGTGATCACCTAC	0.567000													24	92					0	0	1	0	0
TRBC2	28638	broad.mit.edu	37	7	142498916	142498916	+	RNA	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:142498916G>A	ENST00000466254.1	+	0	192																											GCCCCTCAAGGAGCAGCCCGC	0.642000													32	151					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135032354	135032354	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr10:135032354C>G	ENST00000304613.3	+	27	4718	c.4697C>G	c.(4696-4698)tCc>tGc	p.S1566C	KNDC1_ENST00000368572.2_Missense_Mutation_p.S1568C			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1566	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			p.S1566C(2)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AACTTGCTGTCCAAATTTTTG	0.463000													19	51					0	0	1	0	0
THAP7-AS1	439931	broad.mit.edu	37	22	21363078	21363078	+	RNA	SNP	A	A	G	rs73164845	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr22:21363078A>G	ENST00000452284.1	+	0	745				THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA	NR_027051.1																						CTTAAATCCAATCGGACACCA	0.532000													3	11					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138832284	138832284	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chrX:138832284T>A	ENST00000370557.1	-	24	3746	c.2719A>T	c.(2719-2721)Atg>Ttg	p.M907L	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000359686.2_Missense_Mutation_p.M913L|ATP11C_ENST00000370543.1_Missense_Mutation_p.M913L|ATP11C_ENST00000327569.3_Missense_Mutation_p.M913L|ATP11C_ENST00000361648.2_Missense_Mutation_p.M913L			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	913					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.M913L(4)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ATATTGTACATTGTAAGGTAA	0.383000													99	170					0	0	1	0	0
PEX14	5195	broad.mit.edu	37	1	10555367	10555367	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:10555367C>G	ENST00000356607.4	+	2	153	c.73C>G	c.(73-75)Cga>Gga	p.R25G	PEX14_ENST00000538836.1_5'UTR	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	25					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity	p.R25G(2)		breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		TGTGCTGCCTCGAGAGCCGCT	0.433000											OREG0013090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	64					0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56737273	56737273	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr4:56737273A>G	ENST00000381295.2	+	7	1186	c.838A>G	c.(838-840)Atg>Gtg	p.M280V	EXOC1_ENST00000346134.7_Missense_Mutation_p.M280V|EXOC1_ENST00000349598.6_Missense_Mutation_p.M280V	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	280					exocytosis|protein transport	exocyst	protein binding	p.M280V(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					CTAGAACCACATGGACTTGGC	0.433000													10	113					0	0	1	0	0
LYN	4067	broad.mit.edu	37	8	56866476	56866476	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr8:56866476G>C	ENST00000520220.2	+	8	934	c.660G>C	c.(658-660)gaG>gaC	p.E220D	LYN_ENST00000519728.1_Missense_Mutation_p.E241D	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	241	SH2.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	p.E241D(2)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			ATGCCTGGGAGATCCCCCGGG	0.527000													12	79					0	0	1	0	0
TAAR9	134860	broad.mit.edu	37	6	132859813	132859813	+	RNA	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr6:132859813G>T	ENST00000434551.1	+	0	385					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TATCTCTGTTGATAGATACAT	0.383000													13	117					0.00185496	0.00190648	1	1	0
KRTAP23-1	337963	broad.mit.edu	37	21	31720897	31720897	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr21:31720897A>C	ENST00000334160.4	-	1	27	c.28T>G	c.(28-30)Ttc>Gtc	p.F10V		NM_181624.1	NP_853655.1	A1A580	KR231_HUMAN	keratin associated protein 23-1	10						intermediate filament		p.F10V(2)		large_intestine(1)|lung(4)|prostate(1)	6						TGGGAGGAGAAGTTTCCACAG	0.537000													73	596					0	0	1	0	0
ANKRD20A5P	440482	broad.mit.edu	37	18	14179411	14179411	+	RNA	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr18:14179411C>T	ENST00000581935.1	+	0	316																				lung(3)	3						TGTTCGGCTTCAGGAGCCGCA	0.607000													4	14					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100061923	100061923	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:100061923A>G	ENST00000524871.1	+	14	1936	c.1646A>G	c.(1645-1647)tAc>tGc	p.Y549C	CNTN5_ENST00000528682.1_Missense_Mutation_p.Y549C|CNTN5_ENST00000527185.1_Missense_Mutation_p.Y549C|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Missense_Mutation_p.Y549C|CNTN5_ENST00000418526.2_Missense_Mutation_p.Y475C	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	549	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.Y549C(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GAGGGAAAGTACGTTTGCCGA	0.383000													7	95					0	0	1	0	0
BCAR1	9564	broad.mit.edu	37	16	75263784	75263784	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr16:75263784G>A	ENST00000546196.1	-	7	3803	c.2151C>T	c.(2149-2151)ttC>ttT	p.F717F	BCAR1_ENST00000420641.3_Silent_p.F764F|BCAR1_ENST00000393420.6_Silent_p.F764F|BCAR1_ENST00000393422.2_Silent_p.F764F|BCAR1_ENST00000162330.5_Silent_p.F746F|BCAR1_ENST00000418647.3_Silent_p.F792F|BCAR1_ENST00000542031.2_Silent_p.F744F|BCAR1_ENST00000538440.2_Silent_p.F746F|BCAR1_ENST00000535626.2_Silent_p.F598F|BCAR1_ENST00000566982.1_5'UTR			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	746					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	p.F746F(2)|p.F764F(2)|p.F792F(2)		breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCTCCAGGTAGAAGAGCAGCA	0.672000													6	11					0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124503575	124503575	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:124503575G>A	ENST00000357628.3	-	8	973	c.375C>T	c.(373-375)ttC>ttT	p.F125F	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	125					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.F125F(4)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CCTCAGTAGTGAAGTTAAAAT	0.443000													112	280					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100949976	100949976	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:100949976C>T	ENST00000193391.7	-	16	3434	c.3247G>A	c.(3247-3249)Gag>Aag	p.E1083K		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1083	EGF-like 2.|Hyaluronan-binding motif involved in chondroitin sulfate C-binding (By similarity).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	p.E1083K(2)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CACCAGTTCTCACCCACCCGG	0.507000													74	221					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245530604	245530604	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:245530604C>T	ENST00000407071.2	+	3	1374	c.934C>T	c.(934-936)Cac>Tac	p.H312Y	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	312					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.H312Y(4)|p.H112Y(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CATCCAGGCTCACCAGTACCT	0.592000													8	16					0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56217256	56217256	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr12:56217256C>G	ENST00000357606.3	-	4	1733	c.1444G>C	c.(1444-1446)Gag>Cag	p.E482Q	DNAJC14_ENST00000317287.5_Missense_Mutation_p.E482Q|DNAJC14_ENST00000317269.3_Missense_Mutation_p.E482Q|RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.G111A			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	482	J.				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	p.E482Q(2)		breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TTGAAGGCCTCCTCAGCCCGG	0.438000													20	87					0	0	1	0	0
KLHL3	26249	broad.mit.edu	37	5	136963999	136963999	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:136963999G>T	ENST00000508657.1	-	13	2196	c.1482C>A	c.(1480-1482)tgC>tgA	p.C494*	KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000309755.4_Nonsense_Mutation_p.C526*|KLHL3_ENST00000506491.1_Nonsense_Mutation_p.C444*|KLHL3_ENST00000541417.1_3'UTR	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	526						cytoplasm|cytoskeleton	actin binding|structural molecule activity	p.C526*(2)|p.C526C(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CGTTGCGCCGGCACATGTTCA	0.537000													77	338					3.62344e-47	4.32475e-47	1	1	0
SLC35B2	347734	broad.mit.edu	37	6	44222521	44222521	+	Silent	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr6:44222521G>C	ENST00000393812.3	-	4	1364	c.1221C>G	c.(1219-1221)ctC>ctG	p.L407L	SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000537814.1_Silent_p.L274L|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000538577.1_Silent_p.L314L	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	407					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	p.L407L(2)		breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CGTAGACTCTGAGCAGGAGGG	0.602000													12	75					0	0	1	0	0
CACNG4	27092	broad.mit.edu	37	17	65027117	65027117	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr17:65027117G>T	ENST00000262138.3	+	4	983	c.981G>T	c.(979-981)gtG>gtT	p.V327V		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	327					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	p.V327V(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CGACCCCTGTGTGAGCCGCCT	0.572000													61	245					8.50452e-49	1.01917e-48	1	1	0
NOP16	51491	broad.mit.edu	37	5	175812222	175812222	+	Splice_Site	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:175812222C>T	ENST00000389158.5	-	4	828	c.393_splice	c.e4+1	p.K131_splice	NOP16_ENST00000509257.1_Silent_p.K131K|NOP16_ENST00000510123.1_Splice_Site_p.K131_splice|NOP16_ENST00000507413.1_Intron			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	131						nucleolus		p.K106K(2)|p.K131K(2)		central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						AGCCGCTCACCTTATAGTCCT	0.562000													6	32					0	0	1	0	0
FOLR3	2352	broad.mit.edu	37	11	71850176	71850176	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:71850176G>T	ENST00000445078.2	+	3	531	c.460G>T	c.(460-462)Ggg>Tgg	p.G154W	FOLR3_ENST00000442948.2_Missense_Mutation_p.G113W|FOLR3_ENST00000456237.1_Missense_Mutation_p.G156W			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	112					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	p.G156W(1)		large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	ACCCAACCTGGGGCCCTGGAT	0.572000													5	45					1.06961e-07	1.14712e-07	1	1	0
PPP2R2A	5520	broad.mit.edu	37	8	26223870	26223870	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr8:26223870G>A	ENST00000380737.3	+	9	1341	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.E348K	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha									p.E338K(2)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TTCACTGTATGAAAATGACTG	0.308000													12	69					0	0	1	0	0
NUMB	8650	broad.mit.edu	37	14	73749182	73749182	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr14:73749182G>C	ENST00000556772.1	-	5	2836	c.549C>G	c.(547-549)atC>atG	p.I183M	NUMB_ENST00000555394.1_Missense_Mutation_p.I327M|NUMB_ENST00000555238.1_Missense_Mutation_p.I327M|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000359560.3_Missense_Mutation_p.I316M|NUMB_ENST00000535282.1_Missense_Mutation_p.I316M|NUMB_ENST00000356296.4_Missense_Mutation_p.I327M|NUMB_ENST00000454166.4_Missense_Mutation_p.I229M|NUMB_ENST00000355058.3_Missense_Mutation_p.I327M|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000560335.1_Missense_Mutation_p.I229M|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000557597.1_Missense_Mutation_p.I316M|NUMB_ENST00000555738.2_Missense_Mutation_p.I218M|NUMB_ENST00000554546.1_Missense_Mutation_p.I316M			P49757	NUMB_HUMAN	numb homolog (Drosophila)	327	PID.				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane		p.I327M(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		ACAGGGAGCTGATGCTCTCTG	0.498000													22	59					0	0	1	0	0
HYI	81888	broad.mit.edu	37	1	43917151	43917151	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:43917151G>A	ENST00000372425.4	-	7	885	c.690C>T	c.(688-690)ttC>ttT	p.F230F	SZT2_ENST00000372442.1_3'UTR|HYI_ENST00000372426.1_Silent_p.F182F|HYI_ENST00000372432.1_Silent_p.F230F|HYI_ENST00000372434.1_Silent_p.F255F|SZT2_ENST00000562955.1_3'UTR|HYI_ENST00000486909.1_Silent_p.F230F|HYI_ENST00000583037.1_Silent_p.F157F			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	230							hydroxypyruvate isomerase activity	p.F230F(2)|p.F157F(2)		large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACAGATAGGGGAAATTCAGCT	0.607000													3	23					0	0	1	0	0
N4BP1	9683	broad.mit.edu	37	16	48594762	48594762	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr16:48594762C>T	ENST00000262384.3	-	2	2028	c.1792G>A	c.(1792-1794)Gat>Aat	p.D598N	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	598					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		p.D598N(2)|p.D645N(2)		breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TTTAGAGTATCTCGAAACCTT	0.423000													31	180					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	G	rs121912660		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr17:7577099C>G	ENST00000420246.2	-	8	971	c.839G>C	c.(838-840)aGa>aCa	p.R280T	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R280T|TP53_ENST00000359597.4_Missense_Mutation_p.R280T|TP53_ENST00000455263.2_Missense_Mutation_p.R280T|TP53_ENST00000269305.4_Missense_Mutation_p.R280T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (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.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GCGCCGGTCTCTCCCAGGACA	0.542000		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)			18	38					0	0	1	0	0
MUT	4594	broad.mit.edu	37	6	49425625	49425625	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr6:49425625G>C	ENST00000274813.3	-	3	659	c.532C>G	c.(532-534)Cct>Gct	p.P178A		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	178					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	p.P178A(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTTCTAAAGGAATTCCATCA	0.383000													20	102					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186670938	186670938	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:186670938G>C	ENST00000343098.5	+	17	17172	c.17172G>C	c.(17170-17172)aaG>aaC	p.K5724N	FSIP2_ENST00000424728.1_Missense_Mutation_p.K5635N	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.K333N(4)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGAAGTCCAAGAGAAATCTAG	0.388000													9	59					0	0	1	0	0
EXOG	9941	broad.mit.edu	37	3	38548401	38548401	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:38548401C>T	ENST00000287675.5	+	5	683	c.587C>T	c.(586-588)tCt>tTt	p.S196F	EXOG_ENST00000422077.2_Missense_Mutation_p.S146F|EXOG_ENST00000358249.2_Missense_Mutation_p.S56F	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	196						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	p.S196F(2)		central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TGGGTGGTATCTGGGCCTTTG	0.353000													21	70					0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60505791	60505791	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:60505791C>G	ENST00000371201.3	-	5	652	c.545G>C	c.(544-546)aGa>aCa	p.R182T	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	182							calcium ion binding	p.R182T(2)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAGTTCTCTTCTGACCAGGGC	0.423000													38	178					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2876054	2876054	+	Silent	SNP	A	A	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr8:2876054A>G	ENST00000602557.1	-	53	8532	c.7977T>C	c.(7975-7977)caT>caC	p.H2659H	CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Silent_p.H2658H|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000520002.1_Silent_p.H2659H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2659	Sushi 17.					integral to membrane		p.H2387H(2)|p.H2658H(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTCTCTGACATGAGACCCCA	0.483000													90	402					0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62761244	62761244	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:62761244G>C	ENST00000336232.2	-	9	1458	c.1323C>G	c.(1321-1323)atC>atG	p.I441M	SLC22A8_ENST00000545207.1_Missense_Mutation_p.I350M|SLC22A8_ENST00000311438.8_Missense_Mutation_p.I441M|SLC22A8_ENST00000430500.2_Missense_Mutation_p.I441M|SLC22A8_ENST00000535878.1_Missense_Mutation_p.I318M	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	441					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	p.I441M(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GCACCTACCTGATGACTGTGG	0.562000													15	165					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124323233	124323233	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr12:124323233C>G	ENST00000409039.3	+	28	4804	c.4779C>G	c.(4777-4779)atC>atG	p.I1593M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1593	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I185M(2)|p.I1593M(2)		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)		AGCACATGATCAAGGTCAGCC	0.557000													131	309					0	0	1	0	0
FLCN	201163	broad.mit.edu	37	17	17122443	17122443	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr17:17122443C>A	ENST00000285071.4	-	9	1406	c.952G>T	c.(952-954)Gaa>Taa	p.E318*	RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	318					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	p.E318*(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TCCCGCCCTTCTGTACTCTCT	0.587000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				12	41					0.000308642	0.000319434	1	1	0
ADD3	120	broad.mit.edu	37	10	111878416	111878416	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr10:111878416C>T	ENST00000277900.8	+	6	1004	c.639C>T	c.(637-639)ttC>ttT	p.F213F	ADD3_ENST00000356080.4_Silent_p.F213F|ADD3_ENST00000360162.3_Silent_p.F213F	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	213						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	p.F213F(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ATACAGGATTCAGTCCCCATG	0.393000													39	128					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149514487	149514487	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:149514487C>G	ENST00000261799.4	-	4	926	c.457G>C	c.(457-459)Gac>Cac	p.D153H		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	153	Ig-like C2-type 2.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	p.D153H(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGCTGTGGGTCTGTTACTCGG	0.522000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								36	89					0	0	1	0	0
MANBA	4126	broad.mit.edu	37	4	103590175	103590175	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr4:103590175A>T	ENST00000226578.4	-	10	1361	c.1262T>A	c.(1261-1263)cTt>cAt	p.L421H	MANBA_ENST00000505239.1_Missense_Mutation_p.L364H	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	421					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding	p.L421H(1)		cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		AGTTGGATAAAGGGCACAGGC	0.373000													8	80					0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50891429	50891429	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr15:50891429C>A	ENST00000313478.7	-	22	3334	c.3053G>T	c.(3052-3054)aGa>aTa	p.R1018I	TRPM7_ENST00000560955.1_Missense_Mutation_p.R1018I	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1018					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	p.R1018I(2)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TATTGCCTTTCTGGGAACACC	0.353000													28	83					1.06801e-11	1.16654e-11	1	1	0
BCHE	590	broad.mit.edu	37	3	165548362	165548362	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:165548362G>A	ENST00000264381.3	-	2	626	c.460C>T	c.(460-462)Cat>Tat	p.H154Y	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	154					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.H154Y(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TCATAAACATGTAAAGATGAT	0.383000													18	79					0	0	0.008871	0	0
TYMP	1890	broad.mit.edu	37	22	50967929	50967929	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr22:50967929C>A	ENST00000252029.3	-	2	372	c.210G>T	c.(208-210)caG>caT	p.Q70H	TYMP_ENST00000395678.3_Missense_Mutation_p.Q70H|TYMP_ENST00000395681.1_Missense_Mutation_p.Q70H|TYMP_ENST00000395680.1_Missense_Mutation_p.Q70H	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	70					angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity	p.Q70H(1)		large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	ACGCACCGATCTGTGCGCCCT	0.682000													8	100					0.000442599	0.000478064	0.006214	1	0
DPY19L4	286148	broad.mit.edu	37	8	95738658	95738658	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr8:95738658G>A	ENST00000414645.2	+	2	215	c.116G>A	c.(115-117)aGa>aAa	p.R39K		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	39						integral to membrane		p.R39K(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					ATTCCTGAAAGAGCTCCAAAA	0.333000													8	61					0	0	0.003080	0	0
PIDD	55367	broad.mit.edu	37	11	800571	800571	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:800571G>A	ENST00000347755.5	-	12	2154	c.2013C>T	c.(2011-2013)gcC>gcT	p.A671A	PIDD_ENST00000411829.2_Silent_p.A671A	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	671					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	p.A671A(1)									CGCGCTCGAAGGCCGCAAAGA	0.677000													8	66					0	0	0.006214	0	0
SAMD15	161394	broad.mit.edu	37	14	77845256	77845256	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr14:77845256G>C	ENST00000216471.4	+	1	1781	c.1495G>C	c.(1495-1497)Gag>Cag	p.E499Q	SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	499								p.E499Q(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGATCCCTCAGAGTCTCAGAC	0.408000													21	82					0	0	0.002299	0	0
PLP1	5354	broad.mit.edu	37	X	103044264	103044264	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chrX:103044264C>T	ENST00000418604.1	+	7	979	c.699C>T	c.(697-699)ttC>ttT	p.F233F	PLP1_ENST00000303958.2_Silent_p.F233F|PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000361621.2_Silent_p.F198F	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	233					cell death|synaptic transmission	integral to membrane		p.F233F(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						TCCTGCAGTTCCAAATGACCT	0.413000													34	56					0	0	0.002836	0	0
TYRO3	7301	broad.mit.edu	37	15	41865997	41865997	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr15:41865997G>C	ENST00000263798.3	+	18	2490	c.2266G>C	c.(2266-2268)Gag>Cag	p.E756Q	TYRO3_ENST00000559066.1_Missense_Mutation_p.E711Q	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	756	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.E756Q(2)|p.E748Q(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAGCCTCCGGAGTGTATGGA	0.552000													31	101					0	0	0.002096	0	0
TLK2	11011	broad.mit.edu	37	17	60613585	60613585	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr17:60613585A>G	ENST00000326270.9	+	7	686	c.418A>G	c.(418-420)Acg>Gcg	p.T140A	TLK2_ENST00000582809.1_5'UTR|TLK2_ENST00000343388.7_Missense_Mutation_p.T108A|TLK2_ENST00000346027.5_Missense_Mutation_p.T140A|TLK2_ENST00000542523.1_Missense_Mutation_p.T108A			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	140					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.T140A(4)|p.T139A(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AAAGGAGGCAACGGAGGAGCA	0.512000													18	76					0	0	0.006122	0	0
TRHDE	29953	broad.mit.edu	37	12	72893294	72893294	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr12:72893294T>C	ENST00000261180.4	+	6	1562	c.1466T>C	c.(1465-1467)cTg>cCg	p.L489P		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	489					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.L489P(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CAGAGGTTTCTGACCGATGTT	0.448000													15	75					0	0	0.002450	0	0
DNAJB11	51726	broad.mit.edu	37	3	186301672	186301672	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:186301672G>C	ENST00000439351.1	+	9	1688	c.759G>C	c.(757-759)agG>agC	p.R253S	DNAJB11_ENST00000265028.3_Missense_Mutation_p.R253S			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	253					protein folding	endoplasmic reticulum lumen	heat shock protein binding	p.R253S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TATTTGAAAGGAGAGGAGATG	0.338000													4	112					0	0	0.009096	0	0
TIFAB	497189	broad.mit.edu	37	5	134785284	134785284	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:134785284C>T	ENST00000537858.1	-	2	546	c.346G>A	c.(346-348)Gta>Ata	p.V116I		NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	TRAF-interacting protein with forkhead-associated domain, family member B	116										breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCTTCTTCTACGCGAACCAGC	0.557000													6	327					0	0	0.001984	0	0
IMPG2	50939	broad.mit.edu	37	3	100949976	100949976	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:100949976C>T	ENST00000193391.7	-	16	3434	c.3247G>A	c.(3247-3249)Gag>Aag	p.E1083K		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1083	EGF-like 2.|Hyaluronan-binding motif involved in chondroitin sulfate C-binding (By similarity).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	p.E1083K(2)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CACCAGTTCTCACCCACCCGG	0.507000													46	228					0	0	0.003214	0	0
FRRS1	391059	broad.mit.edu	37	1	100212973	100212973	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:100212973C>T	ENST00000414213.1	-	4	811	c.210G>A	c.(208-210)ggG>ggA	p.G70G	FRRS1_ENST00000287474.5_Silent_p.G70G			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	70	Reelin.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		TAAATGGATGCCCTGACAAAG	0.383000													5	240					0	0	0.000602	0	0
LRP1	4035	broad.mit.edu	37	12	57567684	57567684	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr12:57567684C>T	ENST00000243077.3	+	22	3934	c.3468C>T	c.(3466-3468)acC>acT	p.T1156T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1156	LDL-receptor class A 10.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.T1156T(2)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCAACAACACCTCAGTCTGCC	0.622000													39	114					0	0	0.006999	0	0
CACNA1B	774	broad.mit.edu	37	9	140870387	140870387	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr9:140870387C>G	ENST00000371372.1	+	12	1717	c.1572C>G	c.(1570-1572)ctC>ctG	p.L524L	CACNA1B_ENST00000371363.1_Silent_p.L524L|CACNA1B_ENST00000277551.2_Silent_p.L524L|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Silent_p.L525L|CACNA1B_ENST00000371357.1_Silent_p.L525L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	524					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.L524L(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCCTGGGTCTCTTCCTCACAG	0.567000													8	28					0	0	0.004482	0	0
MUC21	394263	broad.mit.edu	37	6	30954349	30954349	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr6:30954349A>G	ENST00000376296.3	+	2	638	c.397A>G	c.(397-399)Agc>Ggc	p.S133G	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	133	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGTGGGGCCAGCACAGCCAC	0.612000													4	117					0	0	0.001168	0	0
CNTLN	54875	broad.mit.edu	37	9	17298312	17298312	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr9:17298312G>T	ENST00000380647.3	+	7	1192	c.1108G>T	c.(1108-1110)Gaa>Taa	p.E370*	CNTLN_ENST00000380641.4_Nonsense_Mutation_p.E370*|CNTLN_ENST00000425824.1_Nonsense_Mutation_p.E370*|CNTLN_ENST00000262360.5_Nonsense_Mutation_p.E370*			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	370						centriole|membrane	two-component sensor activity	p.E370*(2)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GAGAAATCAGGAAGATGTTCA	0.343000													14	60					2.32078e-09	2.71564e-09	0.003163	1	0
SLCO5A1	81796	broad.mit.edu	37	8	70617351	70617351	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr8:70617351C>A	ENST00000260126.3	-	6	2243	c.1537G>T	c.(1537-1539)Gtg>Ttg	p.V513L	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.V458L|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.V513L	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	513						integral to membrane|plasma membrane	transporter activity	p.V513L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AGTAAAGACACACCACTGCAG	0.398000													19	146					7.07596e-05	7.71715e-05	0.006122	1	0
CACNA1B	774	broad.mit.edu	37	9	140919511	140919511	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr9:140919511C>T	ENST00000277549.5	+	20	3318	c.749C>T	c.(748-750)gCa>gTa	p.A250V	CACNA1B_ENST00000371363.1_Missense_Mutation_p.A1058V|CACNA1B_ENST00000371367.5_Missense_Mutation_p.A42V|CACNA1B_ENST00000371372.1_Missense_Mutation_p.A1058V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A1058V|CACNA1B_ENST00000545473.1_Missense_Mutation_p.A42V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A1059V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A1059V			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1058					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.A1058V(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCAGAGGATGCAGACAATCAG	0.592000													7	37					0	0	0.004482	0	0
TBCC	6903	broad.mit.edu	37	6	42713509	42713509	+	Silent	SNP	T	T	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr6:42713509T>G	ENST00000244625.2	-	2	866	c.303A>C	c.(301-303)tcA>tcC	p.S101S	TBCC_ENST00000372876.1_Silent_p.S101S			Q15814	TBCC_HUMAN	tubulin folding cofactor C	101					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			GGAAAAAAACTGAGTCGTTGA	0.682000													5	107					0	0	0.001984	0	0
ETNK1	55500	broad.mit.edu	37	12	22778145	22778145	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr12:22778145C>G	ENST00000266517.4	+	1	137	c.48C>G	c.(46-48)ctC>ctG	p.L16L	ETNK1_ENST00000335148.3_Silent_p.L16L	NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	16					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity	p.L16L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGAATTTTCTCCGAGAGCGGG	0.721000													4	45					0	0	0.009096	0	0
PDPR	55066	broad.mit.edu	37	16	70190452	70190452	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr16:70190452C>T	ENST00000288050.4	+	19	3267	c.2310C>T	c.(2308-2310)ttC>ttT	p.F770F	PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000542659.1_Silent_p.F115F|PDPR_ENST00000568530.1_Silent_p.F770F|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000567046.1_Silent_p.F128F|PDPR_ENST00000398122.3_Silent_p.F670F	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	770					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	p.F770F(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TCACCATGTTCATCCTGGACG	0.532000													61	262					0	0	0.003610	0	0
FIZ1	84922	broad.mit.edu	37	19	56104103	56104103	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:56104103C>T	ENST00000221665.3	-	3	1293	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding	p.E402K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GACGGGGGTTCCCCGGACGCC	0.736000													6	55					0	0	0.004482	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617486	77617486	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr8:77617486C>G	ENST00000521891.2	+	2	1611	c.1163C>G	c.(1162-1164)aCc>aGc	p.T388S	ZFHX4_ENST00000050961.6_Missense_Mutation_p.T388S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.T388S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T388S|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	388						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T388S(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCGCGAGCACCTCGAGCTCA	0.532000										HNSCC(33;0.089)			6	53					0	0	0.004482	0	0
STAT2	6773	broad.mit.edu	37	12	56744927	56744927	+	Missense_Mutation	SNP	C	C	T	rs149666262		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr12:56744927C>T	ENST00000314128.4	-	10	1012	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	STAT2_ENST00000418572.2_Missense_Mutation_p.R326Q|STAT2_ENST00000557235.1_Missense_Mutation_p.R326Q			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	330					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.R330Q(3)		NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GATGAGGGGTCGATGGGGAGT	0.507000													33	169					0	0	0.006999	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							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)		TCTTAACTTACTGTTGTGAAA	0.418000													7	116					0	0	0.003080	0	0
PPP6R3	55291	broad.mit.edu	37	11	68326137	68326137	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:68326137C>T	ENST00000393799.2	+	8	1102	c.835C>T	c.(835-837)Cga>Tga	p.R279*	PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000265637.4_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000527403.2_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000524904.1_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000393800.2_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000529710.1_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000393801.3_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000265636.5_Nonsense_Mutation_p.R279*|PPP6R3_ENST00000524845.1_Nonsense_Mutation_p.R279*			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	279					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ACTTGAGACACGACGACCAAC	0.348000													5	113					0	0	0.001168	0	0
C2orf78	388960	broad.mit.edu	37	2	74042320	74042320	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:74042320G>C	ENST00000409561.1	+	3	1091	c.970G>C	c.(970-972)Gag>Cag	p.E324Q		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	324								p.E324Q(4)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCAGACACTTGAGAGTAACCC	0.463000													25	83					0	0	0.005443	0	0
AMER2	219287	broad.mit.edu	37	13	25743889	25743889	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr13:25743889G>T	ENST00000357816.2	-	3	1987	c.1512C>A	c.(1510-1512)ccC>ccA	p.P504P	AMER2_ENST00000515384.1_Silent_p.P623P|AMER2_ENST00000381853.3_Silent_p.P504P					APC membrane recruitment protein 2									p.P623P(2)|p.P504P(2)									GGTGCACCACGGGATGGCTAG	0.562000													54	202					1.19403e-26	1.47937e-26	0.003610	1	0
MED12	9968	broad.mit.edu	37	X	70351937	70351937	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chrX:70351937C>G	ENST00000333646.6	+	30	4333	c.4134C>G	c.(4132-4134)ctC>ctG	p.L1378L	MED12_ENST00000478889.1_Intron|MED12_ENST00000374102.1_Silent_p.L1378L|MED12_ENST00000374080.3_Silent_p.L1378L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1378					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.L1378L(4)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGAACTCCCTCTTGGAGAACA	0.512000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						17	39					0	0	0.010504	0	0
CD59	966	broad.mit.edu	37	11	33743968	33743968	+	Silent	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:33743968G>C	ENST00000395850.3	-	2	99	c.24C>G	c.(22-24)gtC>gtG	p.V8V	CD59_ENST00000437761.2_Silent_p.V8V|CD59_ENST00000533403.1_Silent_p.V8V|CD59_ENST00000426650.2_Silent_p.V8V|CD59_ENST00000534312.1_Silent_p.V8V|CD59_ENST00000528700.1_Silent_p.V8V|CD59_ENST00000415002.2_Silent_p.V8V|CD59_ENST00000351554.3_Silent_p.V8V|CD59_ENST00000445143.2_Silent_p.V8V|CD59_ENST00000527577.1_Silent_p.V8V	NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2	NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1	P13987	CD59_HUMAN	CD59 molecule, complement regulatory protein	8					blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction		p.V8V(2)		endometrium(1)|lung(2)	3						GCCCGAACAGGACAGACCCTC	0.537000													5	74					0	0	0.001168	0	0
PAPSS1	9061	broad.mit.edu	37	4	108552995	108552995	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr4:108552995G>A	ENST00000265174.4	-	11	1800	c.1528C>T	c.(1528-1530)Cgg>Tgg	p.R510W		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	510					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	p.R510W(1)		NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		GCAACCATCCGTGCTCTGCAA	0.418000													4	57					0	0	0.000602	0	0
SLC12A7	10723	broad.mit.edu	37	5	1089245	1089245	+	Splice_Site	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:1089245T>A	ENST00000264930.5	-	4	386		c.e4-2			NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7						potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	p.?(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCGCGGAGCCTGCGACAGAGC	0.682000													23	251					0	0	0.001882	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090800	115090800	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr13:115090800G>A	ENST00000361283.1	+	3	1792	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	495	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	p.E495K(2)									TGTCTTCCCTGAGACCCGAAA	0.493000													114	380					0	0	0.003610	0	0
SULT1B1	27284	broad.mit.edu	37	4	70596267	70596267	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr4:70596267G>A	ENST00000310613.2	-	7	1027	c.730C>T	c.(730-732)Cta>Tta	p.L244L		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	244					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		p.L244L(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GTAGTTGGTAGATGTGTATAA	0.358000													15	128					0	0	0.004007	0	0
OR2W5	441932	broad.mit.edu	37	1	247655162	247655162	+	RNA	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:247655162C>A	ENST00000522351.1	+	0	793							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P245T(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCTCTTCTCACCTCACAGTGG	0.542000													44	253					2.40228e-13	2.86066e-13	0.003214	1	0
GPATCH1	55094	broad.mit.edu	37	19	33600726	33600726	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:33600726G>T	ENST00000170564.2	+	11	1703	c.1389G>T	c.(1387-1389)agG>agT	p.R463S		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	463						catalytic step 2 spliceosome	nucleic acid binding	p.R463S(2)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TCAAGGCCAGGAGTCTGGCCC	0.542000													26	247					1.04121e-07	1.18543e-07	0.005443	1	0
PKHD1	5314	broad.mit.edu	37	6	51889442	51889442	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr6:51889442G>A	ENST00000371117.3	-	32	5441	c.5166C>T	c.(5164-5166)atC>atT	p.I1722I	PKHD1_ENST00000340994.4_Silent_p.I1722I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1722	IPT/TIG 12; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.I1722I(4)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCCACCCTCTGATGCAGTCAT	0.532000													14	153					0	0	0.002450	0	0
GOLGA4	2803	broad.mit.edu	37	3	37396655	37396655	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:37396655G>T	ENST00000361924.2	+	22	7014	c.6640G>T	c.(6640-6642)Gaa>Taa	p.E2214*	GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.E2229*|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2214	GRIP.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	p.L2213_E2214>F*(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAAAATTTTGGAAAGAGAAGA	0.383000													20	106					1.28384e-07	1.45186e-07	0.001882	1	0
RPL22	6146	broad.mit.edu	37	1	6253091	6253091	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:6253091G>C	ENST00000234875.4	-	3	179	c.141C>G	c.(139-141)atC>atG	p.I47M	RPL22_ENST00000497965.1_Missense_Mutation_p.I14M|RPL22_ENST00000484532.1_Missense_Mutation_p.I14M	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	47					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome	p.I47M(2)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CGTTCACTTTGATCCTTTCTT	0.438000			T	RUNX1	"""AML, CML"""								11	146					0	0	0.001368	0	0
RYR3	6263	broad.mit.edu	37	15	34145245	34145245	+	Splice_Site	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr15:34145245G>T	ENST00000389232.4	+	95	13698		c.e95-1		RYR3_ENST00000559917.1_Splice_Site|RYR3_ENST00000415757.3_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.?(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGTTTTTCAGATCTTTTCCT	0.383000													5	24					4.096e-09	4.7763e-09	0.001168	1	0
ZNF597	146434	broad.mit.edu	37	16	3490921	3490921	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr16:3490921A>G	ENST00000301744.4	-	3	281	c.46T>C	c.(46-48)Ttt>Ctt	p.F16L	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	16	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F16L(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						AGATCCTCAAAGAGTATTGGT	0.498000													16	110					0	0	0.003163	0	0
CACNA1F	778	broad.mit.edu	37	X	49086776	49086776	+	Silent	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chrX:49086776T>A	ENST00000376265.2	-	6	784	c.723A>T	c.(721-723)gcA>gcT	p.A241A	CACNA1F_ENST00000323022.5_Silent_p.A241A|CACNA1F_ENST00000376251.1_Silent_p.A176A	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	241					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.A241A(2)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GCACGAGCAGTGCAATGTGCA	0.557000													12	10					0	0	0.001855	0	0
GTF2I	2969	broad.mit.edu	37	7	74114631	74114631	+	Missense_Mutation	SNP	G	G	A	rs145729076		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:74114631G>A	ENST00000324896.4	+	5	817	c.428G>A	c.(427-429)cGa>cAa	p.R143Q	AC083884.8_ENST00000450426.2_RNA|AC083884.8_ENST00000594967.1_RNA|GTF2I_ENST00000353920.4_Missense_Mutation_p.R143Q|GTF2I_ENST00000346152.4_Missense_Mutation_p.R143Q|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000443166.1_Missense_Mutation_p.R143Q|GTF2I_ENST00000416070.1_Missense_Mutation_p.R143Q	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	143					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R143Q(2)		NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AAGATGCTGCGAGACCAGTCG	0.478000													15	298					0	0	0.006122	0	0
SP140	11262	broad.mit.edu	37	2	231109762	231109762	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:231109762G>A	ENST00000392045.3	+	6	745	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	SP140_ENST00000486687.2_Missense_Mutation_p.E211K|SP140_ENST00000420434.3_Missense_Mutation_p.E211K|SP140_ENST00000350136.5_Missense_Mutation_p.E191K|SP140_ENST00000343805.6_Missense_Mutation_p.E211K|SP140_ENST00000417495.3_Missense_Mutation_p.E211K	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	211					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E211K(2)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGGAGATGCTGAAGATGCACC	0.448000													9	94					0	0	0.000978	0	0
RPL11	6135	broad.mit.edu	37	1	24021184	24021184	+	Missense_Mutation	SNP	C	C	T	rs11556036		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:24021184C>T	ENST00000374550.3	+	4	344	c.299C>T	c.(298-300)tCa>tTa	p.S100L	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	100					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	p.S100L(2)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		AACAACTTCTCAGATACTGGA	0.438000													33	123					0	0	0.009535	0	0
UTRN	7402	broad.mit.edu	37	6	145103245	145103245	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr6:145103245C>G	ENST00000367545.3	+	60	8820	c.8820C>G	c.(8818-8820)ctC>ctG	p.L2940L	UTRN_ENST00000367526.4_Silent_p.L495L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2940	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.L2940L(2)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATTGGTTGCTCAATGTCTATG	0.323000													9	54					0	0	0.008291	0	0
GC	2638	broad.mit.edu	37	4	72634141	72634141	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr4:72634141G>T	ENST00000273951.8	-	3	481	c.138C>A	c.(136-138)gtC>gtA	p.V46V	GC_ENST00000513476.1_Silent_p.V46V|GC_ENST00000504199.1_Silent_p.V65V|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	46	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	p.V65V(2)|p.V46V(2)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TACTGTACAGGACTAGTGACC	0.468000													9	53					3.86212e-05	4.23953e-05	0.008291	1	0
IL1RAPL1	11141	broad.mit.edu	37	X	29972752	29972752	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chrX:29972752G>C	ENST00000378993.1	+	10	1988	c.1315G>C	c.(1315-1317)Gaa>Caa	p.E439Q	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.E439Q	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	439	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.E439Q(4)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGATATGCTTGAAAAGCATTA	0.373000													27	34					0	0	0.007291	0	0
ANAPC1	64682	broad.mit.edu	37	2	112604723	112604723	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:112604723G>C	ENST00000341068.3	-	16	2616	c.1844C>G	c.(1843-1845)tCt>tGt	p.S615C		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	615					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm		p.S615C(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						ACCTAACTCAGAGGTGGCAAT	0.328000													6	88					0	0	0.001984	0	0
STAG3	10734	broad.mit.edu	37	7	99786150	99786150	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:99786150G>A	ENST00000426455.1	+	6	915	c.508G>A	c.(508-510)Gag>Aag	p.E170K	STAG3_ENST00000317296.5_Missense_Mutation_p.E170K|STAG3_ENST00000394018.2_Intron			Q9UJ98	STAG3_HUMAN	stromal antigen 3	170					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	p.E170K(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGTTTAATGAGGTGGAAGA	0.413000													74	410					0	0	0.003610	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	90					0	0	0.001168	0	0
CCDC90B	60492	broad.mit.edu	37	11	82985720	82985720	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:82985720C>G	ENST00000529689.1	-	4	822	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	CCDC90B_ENST00000529073.1_Missense_Mutation_p.E130Q|CCDC90B_ENST00000529611.1_Missense_Mutation_p.E29Q|CCDC90B_ENST00000455220.2_Missense_Mutation_p.E121Q|CCDC90B_ENST00000525503.1_Missense_Mutation_p.E29Q			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	130						integral to membrane|mitochondrion		p.E130Q(2)		kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TCACTTTTCTCTAGGATGACC	0.308000													13	49					0	0	0.004007	0	0
MLH1	4292	broad.mit.edu	37	3	37059088	37059088	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:37059088C>T	ENST00000231790.2	+	10	1098	c.882C>T	c.(880-882)ctC>ctT	p.L294L	MLH1_ENST00000536378.1_Silent_p.L53L|MLH1_ENST00000539477.1_Silent_p.L53L|MLH1_ENST00000458205.2_Silent_p.L53L|MLH1_ENST00000435176.1_Silent_p.L196L|MLH1_ENST00000455445.2_Silent_p.L53L	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	294			Missing (in HNPCC2).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.L294L(2)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TCCTGTACCTCAGGTAATGTA	0.418000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				29	112					0	0	0.008361	0	0
PCMTD2	55251	broad.mit.edu	37	20	62896764	62896764	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr20:62896764C>T	ENST00000308824.6	+	4	691	c.564C>T	c.(562-564)gtC>gtT	p.V188V	PCMTD2_ENST00000299468.7_Silent_p.V188V|PCMTD2_ENST00000369758.3_Silent_p.V188V	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	188						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	p.V188V(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGATCCTTGTCATGCCACTGG	0.468000													20	100					0	0	0.007413	0	0
ZNF546	339327	broad.mit.edu	37	19	40519640	40519640	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:40519640C>G	ENST00000347077.4	+	7	679	c.463C>G	c.(463-465)Caa>Gaa	p.Q155E	ZNF546_ENST00000600094.1_Missense_Mutation_p.Q129E|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q155E(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTATTTATCTCAATTGCAGAC	0.313000													21	210					0	0	0.010504	0	0
EPAS1	2034	broad.mit.edu	37	2	46608818	46608818	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:46608818G>A	ENST00000263734.3	+	13	2639	c.2129G>A	c.(2128-2130)cGa>cAa	p.R710Q		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	710					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	p.R710Q(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AAGCTGAAGCGACAGCTGGAG	0.617000													17	106					0	0	0.006122	0	0
ZNF507	22847	broad.mit.edu	37	19	32844370	32844370	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:32844370C>G	ENST00000311921.3	+	2	826	c.634C>G	c.(634-636)Cca>Gca	p.P212A	ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000544431.1_Missense_Mutation_p.P212A|ZNF507_ENST00000355898.5_Missense_Mutation_p.P212A	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P212A(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TGAAACCATTCCAGATATCCC	0.453000													19	196					0	0	0.006122	0	0
MYCBP2	23077	broad.mit.edu	37	13	77759506	77759506	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr13:77759506C>G	ENST00000407578.2	-	32	4717	c.4451G>C	c.(4450-4452)gGa>gCa	p.G1484A	MYCBP2_ENST00000357337.6_Missense_Mutation_p.G1446A|MYCBP2_ENST00000544440.2_Missense_Mutation_p.G1446A|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.G1446A(4)|p.G1484A(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AACTGCTTTTCCTGTAGCTTT	0.323000													42	169					0	0	0.002852	0	0
BAX	581	broad.mit.edu	37	19	49459574	49459574	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:49459574G>T	ENST00000293288.8	+	4	353	c.353G>T	c.(352-354)aGc>aTc	p.S118I	BAX_ENST00000415969.2_Missense_Mutation_p.S118I|BAX_ENST00000345358.7_Missense_Mutation_p.S118I|BAX_ENST00000539787.1_Missense_Mutation_p.S118I|BAX_ENST00000354470.3_Missense_Mutation_p.S69I|BAX_ENST00000391871.3_3'UTR	NM_004324.3	NP_004315.1	Q07812	BAX_HUMAN	BCL2-associated X protein	118					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity	p.S118I(4)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		TACTTTGCCAGCAAACTGGTG	0.587000													30	99					7.26314e-15	8.77304e-15	0.007291	1	0
FXR1	8087	broad.mit.edu	37	3	180671582	180671582	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:180671582C>T	ENST00000357559.4	+	9	1218	c.834C>T	c.(832-834)ttC>ttT	p.F278F	FXR1_ENST00000468861.1_Silent_p.F193F|FXR1_ENST00000491062.1_Silent_p.F229F|FXR1_ENST00000305586.7_Silent_p.F193F|FXR1_ENST00000480918.1_Silent_p.F265F|FXR1_ENST00000445140.2_Silent_p.F278F	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	278					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		p.F278F(2)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			CTAGAGGTTTCTTGGAATTTG	0.338000													47	152					0	0	0.003610	0	0
RUFY1	80230	broad.mit.edu	37	5	178996340	178996340	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:178996340G>A	ENST00000377001.2	+	5	742	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	RUFY1_ENST00000393438.2_Missense_Mutation_p.E140K|RUFY1_ENST00000437570.2_Missense_Mutation_p.E140K|RUFY1_ENST00000319449.4_Missense_Mutation_p.E248K			Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	248	RUN.				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	p.E140K(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGGAGGAAGAAGGGATGGT	0.478000										HNSCC(44;0.11)			17	273					0	0	0.006122	0	0
NPPA	4878	broad.mit.edu	37	1	11907671	11907671	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:11907671C>G	ENST00000376480.3	-	1	169	c.71G>C	c.(70-72)aGa>aCa	p.R24T	NPPA-AS1_ENST00000446542.1_RNA|NPPA-AS1_ENST00000400892.2_RNA|NPPA_ENST00000376476.1_Intron	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	24					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity	p.R24T(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGATTAGCTCTGGTCTGACC	0.562000													28	273					0	0	0.007291	0	0
CRHR1	1394	broad.mit.edu	37	17	43912048	43912048	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr17:43912048C>A	ENST00000314537.5	+	13	1391	c.1166C>A	c.(1165-1167)gCc>gAc	p.A389D	CRHR1_ENST00000577353.1_Missense_Mutation_p.A375D|CRHR1_ENST00000398285.3_Missense_Mutation_p.A418D|CRHR1_ENST00000352855.5_Missense_Mutation_p.A349D|CRHR1_ENST00000339069.5_Missense_Mutation_p.P243T|CRHR1_ENST00000293493.7_Missense_Mutation_p.A214D	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	418					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	p.A389D(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TCGATCCGTGCCCGAGTGGCC	0.632000													9	103					0.00829132	0.00878671	0.008291	1	0
TSC22D2	9819	broad.mit.edu	37	3	150128747	150128747	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:150128747A>T	ENST00000361875.2	+	1	2626	c.1610A>T	c.(1609-1611)cAg>cTg	p.Q537L	TSC22D2_ENST00000361136.2_Missense_Mutation_p.Q537L	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	537							sequence-specific DNA binding transcription factor activity	p.Q537L(2)		cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CCTCTGGCCCAGTCGCAACAG	0.602000													14	77					0	0	0.004990	0	0
TENM1	10178	broad.mit.edu	37	X	123870875	123870875	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chrX:123870875G>T	ENST00000422452.2	-	4	771	c.708C>A	c.(706-708)acC>acA	p.T236T	TENM1_ENST00000371130.3_Silent_p.T236T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.T238T(2)									CCTGCGTGCTGGTTGGGGGAG	0.557000													34	184					5.43694e-19	6.68703e-19	0.005524	1	0
UBAP2	55833	broad.mit.edu	37	9	33963754	33963754	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr9:33963754G>C	ENST00000379238.1	-	9	832	c.715C>G	c.(715-717)Ctg>Gtg	p.L239V	UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000449054.1_Missense_Mutation_p.L239V|UBAP2_ENST00000379239.4_De_novo_Start_InFrame|UBAP2_ENST00000360802.1_Missense_Mutation_p.L239V|UBAP2_ENST00000418786.2_Missense_Mutation_p.L186V			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	239								p.L239V(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TTGTTTGACAGATCCTGAGCT	0.284000													12	86					0	0	0.004007	0	0
CACNA1E	777	broad.mit.edu	37	1	181480642	181480642	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:181480642A>G	ENST00000526775.1	+	3	673	c.508A>G	c.(508-510)Agt>Ggt	p.S170G	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S121G|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S170G|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S170G|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S121G|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S170G	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	170					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.S170G(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGTGGTCCTCAGTGGGTAAGT	0.522000													48	206					0	0	0.003610	0	0
HEPH	9843	broad.mit.edu	37	X	65476147	65476147	+	Silent	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chrX:65476147T>A	ENST00000519389.1	+	17	3212	c.3033T>A	c.(3031-3033)acT>acA	p.T1011T	HEPH_ENST00000343002.2_Silent_p.T957T|HEPH_ENST00000441993.2_Silent_p.T960T|HEPH_ENST00000336279.5_Silent_p.T690T|HEPH_ENST00000374727.3_Silent_p.T960T|HEPH_ENST00000419594.1_Silent_p.T768T			Q9BQS7	HEPH_HUMAN	hephaestin	957	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.T957T(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGGATGAAACTTTCTTGGAGA	0.398000													4	71					0	0	0.009096	0	0
SZT2	23334	broad.mit.edu	37	1	43893319	43893319	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:43893319C>T	ENST00000562955.1	+	25	3546	c.3546C>T	c.(3544-3546)gtC>gtT	p.V1182V	SZT2_ENST00000372442.1_Silent_p.V340V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1239						peroxisome		p.V340V(4)|p.V1182V(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGTGTCCTGTCTACATCTACA	0.602000													19	140					0	0	0.007413	0	0
PIGX	54965	broad.mit.edu	37	3	196460684	196460684	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:196460684C>G	ENST00000314118.4	+	6	847	c.565C>G	c.(565-567)Cta>Gta	p.L189V	PIGX_ENST00000541663.1_Missense_Mutation_p.L140V	NM_017861.3	NP_060331.3	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	230					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane		p.L189V(2)		endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		ACATACCTCTCTAGTATGTTC	0.378000													37	96					0	0	0.004289	0	0
CPA3	1359	broad.mit.edu	37	3	148596502	148596502	+	Silent	SNP	T	T	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:148596502T>C	ENST00000296046.3	+	5	493	c.441T>C	c.(439-441)tcT>tcC	p.S147S	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	147					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	p.S147S(2)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AAATTGGATCTACTGTTGAAG	0.299000													21	98					0	0	0.002299	0	0
DHRS9	10170	broad.mit.edu	37	2	169938312	169938312	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:169938312C>T	ENST00000327239.4	+	5	1725	c.221C>T	c.(220-222)tCa>tTa	p.S74L	DHRS9_ENST00000432060.2_Missense_Mutation_p.S134L|DHRS9_ENST00000436483.2_Missense_Mutation_p.S74L|DHRS9_ENST00000602501.1_Missense_Mutation_p.S74L|DHRS9_ENST00000357546.2_Missense_Mutation_p.S74L|DHRS9_ENST00000428522.1_Missense_Mutation_p.S74L|DHRS9_ENST00000412271.1_Missense_Mutation_p.S74L|DHRS9_ENST00000421653.1_5'UTR	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	74					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity	p.S74L(2)		breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GCAGAAACCTCAGAGAGACTT	0.468000													11	89					0	0	0.008291	0	0
BRD1	23774	broad.mit.edu	37	22	50192686	50192686	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr22:50192686G>A	ENST00000216267.8	-	3	2092	c.1606C>T	c.(1606-1608)Cgc>Tgc	p.R536C	BRD1_ENST00000457780.2_Missense_Mutation_p.R536C|BRD1_ENST00000404760.1_Missense_Mutation_p.R536C|BRD1_ENST00000342989.5_Missense_Mutation_p.R131C|BRD1_ENST00000404034.1_Missense_Mutation_p.R536C|BRD1_ENST00000542442.1_Missense_Mutation_p.R229C	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	536					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	p.R536C(2)|p.R131C(2)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ATCAGCAGGCGAGCGCGCTCC	0.622000													5	36					0	0	0.000602	0	0
UNC5B	219699	broad.mit.edu	37	10	73053578	73053578	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr10:73053578C>G	ENST00000335350.6	+	13	2479	c.2063C>G	c.(2062-2064)tCc>tGc	p.S688C	UNC5B_ENST00000373192.4_Missense_Mutation_p.S677C	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	688					apoptosis|axon guidance|regulation of apoptosis	integral to membrane		p.S688C(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GAGTCCTATTCCCGCTCAGCA	0.657000													6	21					0	0	0.001984	0	0
TTC23	64927	broad.mit.edu	37	15	99696503	99696503	+	Splice_Site	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr15:99696503C>T	ENST00000394132.2	-	12	1811		c.e12-1		TTC23_ENST00000394130.1_Splice_Site|TTC23_ENST00000394129.2_Splice_Site|TTC23_ENST00000394136.1_Splice_Site|TTC23_ENST00000394135.3_Splice_Site|TTC23_ENST00000558663.1_Splice_Site|TTC23_ENST00000558613.1_Splice_Site|TTC23_ENST00000262074.4_Splice_Site			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23								binding	p.?(2)		endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			AGGTTGCTCTCTGTGAAAGGA	0.488000													15	50					0	0	0.003163	0	0
TBC1D31	93594	broad.mit.edu	37	8	124146378	124146378	+	Missense_Mutation	SNP	G	G	A	rs144947635	byFrequency	TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr8:124146378G>A	ENST00000287380.1	+	17	2521	c.2431G>A	c.(2431-2433)Gct>Act	p.A811T	TBC1D31_ENST00000378080.2_3'UTR|TBC1D31_ENST00000522420.1_Missense_Mutation_p.A706T|TBC1D31_ENST00000309336.3_Missense_Mutation_p.A811T|TBC1D31_ENST00000327098.5_Intron|TBC1D31_ENST00000518805.1_Missense_Mutation_p.A365T|TBC1D31_ENST00000521676.1_Missense_Mutation_p.A688T	NM_145647.3	NP_663622.2			TBC1 domain family, member 31									p.A811T(2)									TCGAGAAATTGCTGCCACAGC	0.318000													15	122					0	0	0.006122	0	0
OR2L8	391190	broad.mit.edu	37	1	248112672	248112672	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:248112672G>T	ENST00000357191.3	+	1	513	c.513G>T	c.(511-513)agG>agT	p.R171S	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R171S(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GCCGATCCAGGGCCATCAATC	0.483000													56	230					2.27459e-33	2.88172e-33	0.003610	1	0
PHKB	5257	broad.mit.edu	37	16	47723058	47723058	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr16:47723058G>C	ENST00000455779.1	+	28	2901	c.2716G>C	c.(2716-2718)Gat>Cat	p.D906H	PHKB_ENST00000566044.1_Missense_Mutation_p.D906H|PHKB_ENST00000299167.8_Missense_Mutation_p.D913H|PHKB_ENST00000323584.5_Missense_Mutation_p.D913H			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	913					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	p.D913H(4)|p.D906H(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GCTTCTGCTGGATATTCTGCA	0.428000													23	108					0	0	0.002299	0	0
EVI5	7813	broad.mit.edu	37	1	93159385	93159385	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:93159385G>A	ENST00000370331.1	-	9	1212	c.1203C>T	c.(1201-1203)gtC>gtT	p.V401V	EVI5_ENST00000543509.1_Silent_p.V401V|EVI5_ENST00000540033.1_Silent_p.V401V	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	401	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	p.V401V(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		AATTGTATTTGACTTGGTAAG	0.308000													39	215					0	0	0.002522	0	0
BMP2K	55589	broad.mit.edu	37	4	79793823	79793823	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr4:79793823C>T	ENST00000335016.5	+	13	1830	c.1664C>T	c.(1663-1665)cCg>cTg	p.P555L	BMP2K_ENST00000502871.1_Missense_Mutation_p.P555L	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	555	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity	p.P555L(4)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						CAACATCAGCCGTCTCAACAA	0.443000													8	61					0	0	0.003080	0	0
RAB3IP	117177	broad.mit.edu	37	12	70133583	70133583	+	Translation_Start_Site	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr12:70133583G>A	ENST00000550536.1	+	0	414				RAB3IP_ENST00000483530.2_Intron|RAB3IP_ENST00000247833.7_Intron|RAB3IP_ENST00000378815.6_Intron|RAB3IP_ENST00000362025.5_De_novo_Start_OutOfFrame|RAB3IP_ENST00000325555.9_Intron	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein						cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CAGAAGTGATGATGCTGGGTG	0.547000													10	52					0	0	0.006214	0	0
MTBP	27085	broad.mit.edu	37	8	121463465	121463465	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr8:121463465G>C	ENST00000305949.1	+	4	373	c.328G>C	c.(328-330)Gaa>Caa	p.E110Q		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	110					cell cycle arrest			p.E110Q(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AGATAAAATTGAAGATGTTCT	0.308000													15	48					0	0	0.003163	0	0
LNPEP	4012	broad.mit.edu	37	5	96350700	96350700	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:96350700G>A	ENST00000231368.5	+	13	2969	c.2277G>A	c.(2275-2277)gaG>gaA	p.E759E	LNPEP_ENST00000395770.3_Silent_p.E745E	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	759					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.E759E(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TTGGAAATGAGAACCATACTG	0.433000													34	172					0	0	0.003755	0	0
CNOT1	23019	broad.mit.edu	37	16	58580600	58580600	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr16:58580600C>T	ENST00000317147.5	-	28	4136	c.3804G>A	c.(3802-3804)gaG>gaA	p.E1268E	CNOT1_ENST00000245138.4_Silent_p.E119E|CNOT1_ENST00000569240.1_Silent_p.E1263E|CNOT1_ENST00000441024.2_Silent_p.E1268E	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1268					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.E1268E(4)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCTGATGTAGCTCAGCTAATA	0.388000													7	106					0	0	0.003080	0	0
DENND1B	163486	broad.mit.edu	37	1	197576259	197576259	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:197576259C>G	ENST00000235453.4	-	13	1052	c.775G>C	c.(775-777)Gat>Cat	p.D259H	DENND1B_ENST00000367396.3_Missense_Mutation_p.D289H|DENND1B_ENST00000400967.2_Missense_Mutation_p.D259H			Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	289	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	p.D289H(2)|p.D259H(2)		NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						GTGTTTGTATCAACATTTAAC	0.294000													9	62					0	0	0.008291	0	0
LOC101927905	101927905	broad.mit.edu	37	12	8388289	8388289	+	RNA	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr12:8388289G>A	ENST00000304751.9	+	0	279				FAM86FP_ENST00000427893.2_RNA														p.I124I(1)									CGTGAGAGATGATGGCTGTGC	0.592000													10	127					0	0	0.008291	0	0
SBSN	374897	broad.mit.edu	37	19	36017721	36017721	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:36017721C>A	ENST00000452271.2	-	1	1491	c.1463G>T	c.(1462-1464)gGg>gTg	p.G488V	SBSN_ENST00000518157.1_Missense_Mutation_p.G145V	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	145						extracellular region		p.G488V(2)|p.G145V(2)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGCTTCCTTCCCAGCCTGGTG	0.597000													23	152					1.22574e-08	1.42439e-08	0.002299	1	0
MED12	9968	broad.mit.edu	37	X	70352266	70352266	+	Silent	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chrX:70352266C>A	ENST00000333646.6	+	31	4492	c.4293C>A	c.(4291-4293)ctC>ctA	p.L1431L	MED12_ENST00000478889.1_Intron|MED12_ENST00000374102.1_Silent_p.L1431L|MED12_ENST00000374080.3_Silent_p.L1431L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1431					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.L1431L(4)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGGCCCCCCTCATTGCTAAAC	0.557000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						13	29					7.93312e-07	8.85252e-07	0.002450	1	0
ABHD11	83451	broad.mit.edu	37	7	73150991	73150991	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:73150991G>A	ENST00000222800.3	-	6	915	c.846C>T	c.(844-846)ctC>ctT	p.L282L	ABHD11_ENST00000395147.4_Silent_p.L225L|ABHD11_ENST00000458339.1_3'UTR|ABHD11_ENST00000437775.2_Silent_p.L275L	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	282							hydrolase activity	p.L282L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCCGAGGGAAGAGCCGCATAA	0.607000													19	103					0	0	0.001882	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062972	76062972	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:76062972G>A	ENST00000260045.3	-	5	1327	c.1222C>T	c.(1222-1224)Ctt>Ttt	p.L408F		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	408					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	p.L408F(2)		cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TTCTGAAAAAGAACAGAAATT	0.383000													21	44					0	0	0.004656	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54914904	54914904	+	Splice_Site	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr12:54914904A>G	ENST00000293373.6	+	18	1839	c.1758_splice	c.e18-1	p.Y587_splice	NCKAP1L_ENST00000545638.2_Splice_Site_p.Y537_splice	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	587					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	p.Y587C(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TTCCCATAGTACCCCCACCTC	0.517000													39	156					0	0	0.006999	0	0
OR1C1	26188	broad.mit.edu	37	1	247920842	247920842	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:247920842G>T	ENST00000408896.2	-	1	1140	c.867C>A	c.(865-867)atC>atA	p.I289I		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I289I(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TTAGGGTATAGATGAAAGGAT	0.458000													24	142					9.86323e-18	1.20431e-17	0.003954	1	0
ST6GALNAC3	256435	broad.mit.edu	37	1	77094490	77094490	+	Nonstop_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:77094490G>C	ENST00000328299.3	+	5	1065	c.917G>C	c.(916-918)tGa>tCa	p.*306S		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	0					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.*306S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ACATTGTCTTGATAATGGTTT	0.398000													32	117					0	0	0.002836	0	0
IGSF22	283284	broad.mit.edu	37	11	18735942	18735942	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:18735942C>T	ENST00000513874.1	-	13	1819	c.1680G>A	c.(1678-1680)caG>caA	p.Q560Q	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	560								p.Q560Q(4)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GCTTCACAATCTGCATGCCTG	0.597000													24	138					0	0	0.004656	0	0
SLC38A11	151258	broad.mit.edu	37	2	165755217	165755217	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:165755217G>T	ENST00000303735.4	-	10	1215	c.885C>A	c.(883-885)ctC>ctA	p.L295L	SLC38A11_ENST00000409662.1_Silent_p.L317L|SLC38A11_ENST00000409149.3_Silent_p.L317L|SLC38A11_ENST00000409058.1_Silent_p.L348L	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	317					amino acid transport|sodium ion transport	integral to membrane		p.L295L(2)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TGATAAAAATGAGGGGAGTTG	0.408000													5	74					0.000602214	0.000646326	0.000602	1	0
CETN3	1070	broad.mit.edu	37	5	89695226	89695226	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:89695226C>A	ENST00000283122.3	-	4	533	c.409G>T	c.(409-411)Gaa>Taa	p.E137*	CETN3_ENST00000522083.1_Nonsense_Mutation_p.E137*|CETN3_ENST00000522565.1_Nonsense_Mutation_p.E137*|CETN3_ENST00000522864.1_Intron	NM_004365.2	NP_004356.2	O15182	CETN3_HUMAN	centrin, EF-hand protein, 3	137	EF-hand 4.				cell division|centrosome cycle|mitosis	centriole	calcium ion binding	p.E137*(2)		lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		CGAAGTTCTTCATCACTCATG	0.358000													19	98					1.56452e-12	1.84998e-12	0.007413	1	0
TACC2	10579	broad.mit.edu	37	10	123970013	123970013	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr10:123970013G>C	ENST00000369005.1	+	9	6413	c.6073G>C	c.(6073-6075)Gat>Cat	p.D2025H	TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000513429.1_Missense_Mutation_p.D171H|TACC2_ENST00000260733.3_Missense_Mutation_p.D103H|TACC2_ENST00000334433.3_Missense_Mutation_p.D2025H|TACC2_ENST00000368999.1_Missense_Mutation_p.D103H|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000360561.3_Missense_Mutation_p.D103H|TACC2_ENST00000358010.1_Missense_Mutation_p.D171H|TACC2_ENST00000515603.1_Missense_Mutation_p.D1980H|TACC2_ENST00000453444.2_Missense_Mutation_p.D2029H|TACC2_ENST00000369004.3_Missense_Mutation_p.D103H|TACC2_ENST00000515273.1_Missense_Mutation_p.D2029H	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2025						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.D2025H(2)|p.D2025N(1)		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)				TGCCGTCTTCGATGAAGACAA	0.552000													13	24					0	0	0.001368	0	0
TMEM8C	389827	broad.mit.edu	37	9	136380685	136380685	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr9:136380685G>T	ENST00000339996.3	-	4	545	c.444C>A	c.(442-444)agC>agA	p.S148R	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	148						integral to membrane		p.S148R(2)		NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						GGGTGTAGACGCTCTTGTCTG	0.597000													18	75					2.37509e-13	2.83832e-13	0.010504	1	0
TEX264	51368	broad.mit.edu	37	3	51718530	51718530	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:51718530C>T	ENST00000415259.1	+	3	1441	c.360C>T	c.(358-360)ttC>ttT	p.F120F	TEX264_ENST00000463857.1_3'UTR|TEX264_ENST00000341333.5_Silent_p.F120F|TEX264_ENST00000416589.1_Silent_p.F120F|TEX264_ENST00000457573.1_Silent_p.F120F|TEX264_ENST00000395057.1_Silent_p.F120F			Q9Y6I9	TX264_HUMAN	testis expressed 264	120						extracellular region		p.F120F(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		AATTTGGCTTCAAGGTGTTCT	0.592000													10	93					0	0	0.008291	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110476724	110476724	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr8:110476724G>A	ENST00000378402.5	+	49	7767	c.7663G>A	c.(7663-7665)Gat>Aat	p.D2555N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2555					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.D2557N(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTTCTGAATGATGATGTGAC	0.443000										HNSCC(38;0.096)			14	79					0	0	0.001855	0	0
CD97	976	broad.mit.edu	37	19	14507264	14507264	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:14507264G>C	ENST00000242786.5	+	5	537	c.457G>C	c.(457-459)Gag>Cag	p.E153Q	CD97_ENST00000358600.3_Intron|CD97_ENST00000357355.3_Missense_Mutation_p.E153Q|CD97_ENST00000587728.1_Intron	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	153	EGF-like 3; calcium-binding (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.E153Q(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GTTCATACCTGAGGATCCGAA	0.597000													15	80					0	0	0.002780	0	0
SNHG14	104472715	broad.mit.edu	37	15	25420074	25420074	+	RNA	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr15:25420074G>A	ENST00000441592.2	+	0	179				SNORD115-3_ENST00000363100.1_RNA																							GCCCTGGGTTGGGTCAATGAT	0.512000													64	264					0	0	0.003610	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67854848	67854848	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr16:67854848G>T	ENST00000388833.3	+	3	469	c.92G>T	c.(91-93)cGa>cTa	p.R31L	TSNAXIP1_ENST00000562321.1_Intron|TSNAXIP1_ENST00000415766.3_Intron|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.R85L	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	31					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		p.R31L(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TACCGGAAGCGAGTAGGGTAA	0.597000													54	352					2.01807e-28	2.52821e-28	0.003610	1	0
BCAS3	54828	broad.mit.edu	37	17	58946004	58946004	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr17:58946004C>G	ENST00000589222.1	+	8	612	c.544C>G	c.(544-546)Caa>Gaa	p.Q182E	BCAS3_ENST00000408905.3_Missense_Mutation_p.Q182E|BCAS3_ENST00000588462.1_Missense_Mutation_p.Q182E|BCAS3_ENST00000390652.5_Missense_Mutation_p.Q182E|BCAS3_ENST00000407086.3_Missense_Mutation_p.Q182E			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	182						nucleus		p.Q182E(2)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CAAGTCCATTCAATTTAAGAC	0.373000													23	81					0	0	0.006320	0	0
PLD5	200150	broad.mit.edu	37	1	242271010	242271010	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:242271010G>T	ENST00000442594.2	-	9	1435	c.926C>A	c.(925-927)gCg>gAg	p.A309E	PLD5_ENST00000427495.1_Missense_Mutation_p.A339E|PLD5_ENST00000536534.1_Missense_Mutation_p.A401E	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	401						integral to membrane	catalytic activity	p.A309E(2)|p.A401E(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AGTGCAAATCGCTTTAAGAGA	0.368000													50	191					2.74695e-27	3.4286e-27	0.003610	1	0
MYCBP2	23077	broad.mit.edu	37	13	77760049	77760049	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr13:77760049C>G	ENST00000407578.2	-	31	4667	c.4401G>C	c.(4399-4401)ctG>ctC	p.L1467L	MYCBP2_ENST00000357337.6_Silent_p.L1429L|MYCBP2_ENST00000544440.2_Silent_p.L1429L|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.L1429L(4)|p.L1467L(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCAATAACCTCAGACAACAGG	0.383000													12	71					0	0	0.002450	0	0
GRK6	2870	broad.mit.edu	37	5	176859748	176859748	+	Silent	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:176859748G>C	ENST00000355472.5	+	5	549	c.381G>C	c.(379-381)acG>acC	p.T127T	GRK6_ENST00000393576.3_Silent_p.T127T|GRK6_ENST00000507633.1_Silent_p.T127T|GRK6_ENST00000528793.1_Silent_p.T127T|GRK6_ENST00000355958.5_Silent_p.T127T	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	127	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.T127T(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTGGTGACGAACTGCACCC	0.632000													4	42					0	0	0.001984	0	0
BRAF	673	broad.mit.edu	37	7	140453193	140453193	+	Splice_Site	SNP	T	T	C	rs121913370		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:140453193T>C	ENST00000288602.6	-	15	1802	c.1741_splice	c.e15-1	p.N581_splice		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	581	Protein kinase.		N -> D (in CFC syndrome).|N -> S (in a colorectal adenocarcinoma sample; somatic mutation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.N581S(9)|p.N581I(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	AAGAAATATATCTGAGGTGTA	0.358000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				44	77					0	0	0.003610	0	0
LGR4	55366	broad.mit.edu	37	11	27389919	27389919	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:27389919G>A	ENST00000379214.4	-	18	2794	c.2351C>T	c.(2350-2352)tCt>tTt	p.S784F	LGR4_ENST00000389858.4_Missense_Mutation_p.S760F	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	784						integral to membrane|plasma membrane	protein-hormone receptor activity	p.S784F(2)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CAGAGTAACAGACTTCATTAT	0.403000													16	111					0	0	0.004007	0	0
ATN1	1822	broad.mit.edu	37	12	7045360	7045360	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr12:7045360C>G	ENST00000356654.4	+	5	1167	c.930C>G	c.(928-930)ctC>ctG	p.L310L	ATN1_ENST00000396684.2_Silent_p.L310L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	310					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	p.L310L(2)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGAGACCCCTCAACAATGCAT	0.637000													19	143					0	0	0.010504	0	0
COG3	83548	broad.mit.edu	37	13	46056606	46056606	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr13:46056606C>T	ENST00000349995.5	+	6	827	c.715C>T	c.(715-717)Cat>Tat	p.H239Y		NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	239					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity	p.H239Y(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		TATCTCATCTCATGTAAGTCA	0.328000													6	61					0	0	0.003080	0	0
CCDC87	55231	broad.mit.edu	37	11	66358453	66358453	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:66358453C>T	ENST00000333861.3	-	1	2101	c.2034G>A	c.(2032-2034)ctG>ctA	p.L678L		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	678								p.L678L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TCTGCAGGCTCAGAATTTTGT	0.532000													48	118					0	0	0.003610	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46120223	46120223	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:46120223C>T	ENST00000355105.3	-	6	1829	c.469G>A	c.(469-471)Gag>Aag	p.E157K	GPBP1L1_ENST00000290795.3_Missense_Mutation_p.E157K	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.E157K(2)	GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					ACAAAGTCCTCCTCTTCAAAC	0.388000													13	141					0	0	0.004007	0	0
RYR1	6261	broad.mit.edu	37	19	39025783	39025783	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:39025783G>C	ENST00000355481.4	+	79	11478	c.11347G>C	c.(11347-11349)Gag>Cag	p.E3783Q	RYR1_ENST00000360985.3_Missense_Mutation_p.E3788Q|RYR1_ENST00000359596.3_Missense_Mutation_p.E3788Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3788					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.E3788Q(2)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCTCCAGGAGAGACAGGTGC	0.557000													13	109					0	0	0.001855	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810208	106810208	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:106810208G>A	ENST00000526355.1	-	4	1652	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.S395F|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.S395F	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	395					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.S395F(2)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TTCAGAGCCAGAAGCCTCAGG	0.438000													24	233					0	0	0.002780	0	0
ABCA12	26154	broad.mit.edu	37	2	215919366	215919366	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:215919366T>A	ENST00000272895.7	-	4	559	c.340A>T	c.(340-342)Aac>Tac	p.N114Y		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	114					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.N114Y(2)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTATCCAGGTTGGATGACTTT	0.393000													27	231					0	0	0.006320	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768409	31768409	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:31768409C>A	ENST00000240587.4	-	2	2617	c.2290G>T	c.(2290-2292)Gcc>Tcc	p.A764S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	764					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A581S(2)|p.A764S(2)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGCGGGGTGGCCACAGCAGCC	0.602000													14	241					3.45872e-05	3.8216e-05	0.004007	1	0
ABCA13	154664	broad.mit.edu	37	7	48349715	48349715	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:48349715G>C	ENST00000435803.1	+	24	9517	c.9493G>C	c.(9493-9495)Gat>Cat	p.D3165H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3165					transport	integral to membrane	ATP binding|ATPase activity	p.D3165H(2)|p.D3110H(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCGAAACTTGGATGTGCGAGC	0.502000													42	367					0	0	0.003214	0	0
OLFM4	10562	broad.mit.edu	37	13	53624648	53624648	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr13:53624648G>T	ENST00000219022.2	+	5	1353	c.1275G>T	c.(1273-1275)caG>caT	p.Q425H		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	425	Olfactomedin-like.				cell adhesion	extracellular space		p.Q425H(2)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ATACCAAGCAGTATAAACCAT	0.408000													15	133					4.14922e-12	4.88911e-12	0.004007	1	0
PLCL1	5334	broad.mit.edu	37	2	198949863	198949863	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:198949863G>T	ENST00000428675.1	+	2	2020	c.1622G>T	c.(1621-1623)gGa>gTa	p.G541V	PLCL1_ENST00000437704.2_Missense_Mutation_p.G443V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	541	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.G541V(2)|p.G443V(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATTGTGAAAGGAAAGAAGTTG	0.388000													10	93					1.76689e-08	2.03223e-08	0.006214	1	0
NIPAL4	348938	broad.mit.edu	37	5	156899773	156899773	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:156899773C>G	ENST00000311946.7	+	6	1322	c.1206C>G	c.(1204-1206)ttC>ttG	p.F402L	ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.F383L	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	402						integral to membrane	receptor activity	p.F340L(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						TGGGCGTGTTCATGCTGCATG	0.547000													15	95					0	0	0.004007	0	0
CPS1	1373	broad.mit.edu	37	2	211542708	211542708	+	Nonstop_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:211542708A>G	ENST00000233072.5	+	38	4698	c.4502A>G	c.(4501-4503)tAg>tGg	p.*1501W	CPS1_ENST00000430249.2_Nonstop_Mutation_p.*1507W|CPS1_ENST00000451903.2_Nonstop_Mutation_p.*1050W	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	0					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.*1501W(2)|p.*1507W(2)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AAAGCAGCATAGAGATGCAGA	0.433000													51	204					0	0	0.003610	0	0
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398000													4	173					0	0	0.001168	0	0
ELOVL5	60481	broad.mit.edu	37	6	53156718	53156718	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr6:53156718G>A	ENST00000542638.1	-	3	549	c.102C>T	c.(100-102)ccC>ccT	p.P34P	ELOVL5_ENST00000304434.6_Silent_p.P34P|ELOVL5_ENST00000370918.4_Silent_p.P34P|ELOVL5_ENST00000486973.1_5'UTR|ELOVL5_ENST00000541407.1_Silent_p.P34P			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	34					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	p.P34P(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					AGATAAATGTGGGTATATAAT	0.318000													11	123					0	0	0.001855	0	0
GPR183	1880	broad.mit.edu	37	13	99947431	99947431	+	Silent	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr13:99947431C>G	ENST00000376414.4	-	2	1052	c.969G>C	c.(967-969)ctG>ctC	p.L323L	UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	323					humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.L323L(2)		cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						CTTGCCGTTTCAGCATCCTCA	0.408000													26	129					0	0	0.003954	0	0
SEZ6L	23544	broad.mit.edu	37	22	26771546	26771546	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr22:26771546G>A	ENST00000529632.2	+	14	2996	c.2800G>A	c.(2800-2802)Gaa>Aaa	p.E934K	SEZ6L_ENST00000402979.1_Missense_Mutation_p.E717K|SEZ6L_ENST00000248933.6_Missense_Mutation_p.E945K|SEZ6L_ENST00000360929.3_Missense_Mutation_p.E870K|SEZ6L_ENST00000403121.1_Missense_Mutation_p.E641K|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.E944K|SEZ6L_ENST00000343706.4_Missense_Mutation_p.E869K|SEZ6L_ENST00000411842.2_Intron	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	945						endoplasmic reticulum membrane|integral to membrane		p.E945K(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TTCAGTAGCAGAAGCGGCAGC	0.572000													6	45					0	0	0.003080	0	0
MAST3	23031	broad.mit.edu	37	19	18255868	18255868	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:18255868G>T	ENST00000262811.5	+	23	2781	c.2781G>T	c.(2779-2781)tcG>tcT	p.S927S	AC007192.6_ENST00000600364.1_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	927	Ser-rich.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.S949S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CTCTGTCCTCGAACCCGTCGT	0.667000													15	45					1.49906e-05	1.66727e-05	0.002450	1	0
LCAT	3931	broad.mit.edu	37	16	67976321	67976321	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr16:67976321G>C	ENST00000264005.5	-	5	722	c.693C>G	c.(691-693)atC>atG	p.I231M		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	231					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity	p.I231M(2)		cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		CCCCAAGAGAGATGAAGCCAT	0.582000													12	95					0	0	0.000978	0	0
MAP3K13	9175	broad.mit.edu	37	3	185169074	185169074	+	Splice_Site	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:185169074G>A	ENST00000265026.3	+	7	1503		c.e7-1		MAP3K13_ENST00000446828.1_Splice_Site|MAP3K13_ENST00000443863.1_Splice_Site|MAP3K13_ENST00000424227.1_Splice_Site|MAP3K13_ENST00000535426.1_Splice_Site	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13						activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	p.?(4)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TTCACTTTTAGGCAGAGTAAA	0.383000													30	81					0	0	0.007291	0	0
DSTN	11034	broad.mit.edu	37	20	17581487	17581487	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr20:17581487C>T	ENST00000246069.6	+	2	454	c.108C>T	c.(106-108)gtC>gtT	p.V36V	DSTN_ENST00000474024.1_3'UTR|DSTN_ENST00000543261.1_Silent_p.V19V	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	36	ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding	p.V36V(2)		endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AGAAGGCTGTCATTTTTTGTC	0.393000													34	78					0	0	0.002836	0	0
PURB	5814	broad.mit.edu	37	7	44924761	44924761	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:44924761C>T	ENST00000395699.2	-	1	199	c.187G>A	c.(187-189)Gag>Aag	p.E63K		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	63					regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding	p.E63K(1)		large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						GCGCCCACCTCGGCGATCTTG	0.632000													5	36					0	0	0.001168	0	0
OR10X1	128367	broad.mit.edu	37	1	158549566	158549566	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:158549566A>T	ENST00000368150.1	-	1	123	c.124T>A	c.(124-126)Ttt>Att	p.F42I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F42I(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ACAAAAAGAAATGTCTGTACA	0.418000													21	133					0	0	0.008871	0	0
CSMD3	114788	broad.mit.edu	37	8	113246694	113246694	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr8:113246694C>A	ENST00000297405.5	-	68	10884	c.10640G>T	c.(10639-10641)aGc>aTc	p.S3547I	CSMD3_ENST00000343508.3_Missense_Mutation_p.S3507I|CSMD3_ENST00000455883.2_Missense_Mutation_p.S3378I|CSMD3_ENST00000352409.3_Missense_Mutation_p.S3477I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3547						integral to membrane|plasma membrane		p.S3547I(2)|p.S3507I(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGCTTCCTGGCTTTTATATAC	0.323000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	164					0.000566183	0.000609597	0.004990	1	0
ZNF668	79759	broad.mit.edu	37	16	31073109	31073109	+	Silent	SNP	C	C	T	rs144972780	byFrequency	TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr16:31073109C>T	ENST00000538906.1	-	3	1924	c.1140G>A	c.(1138-1140)acG>acA	p.T380T	ZNF668_ENST00000300849.4_Silent_p.T380T|ZNF668_ENST00000426488.2_Silent_p.T403T|ZNF668_ENST00000535577.1_Silent_p.T380T|ZNF668_ENST00000417110.2_Silent_p.F99F|ZNF668_ENST00000394983.2_Silent_p.T380T|ZNF668_ENST00000539836.3_Silent_p.T403T	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T380T(2)|p.T403T(2)		breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GGCTATGCTTCGTGAGGCTGG	0.672000													36	322					0	0	0.004289	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121680889	121680889	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:121680889C>G	ENST00000393386.2	+	21	6068	c.5657C>G	c.(5656-5658)cCc>cGc	p.P1886R	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.P1019R	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1886	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.P1886R(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AAAGGAAGACCCAGTGGACGT	0.512000													20	125					0	0	0.010504	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	71					0	0	0.000602	0	0
FRMD8	83786	broad.mit.edu	37	11	65154527	65154527	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:65154527G>T	ENST00000317568.5	+	2	183	c.20G>T	c.(19-21)aGt>aTt	p.S7I	FRMD8_ENST00000355991.5_Missense_Mutation_p.S7I|FRMD8_ENST00000416776.2_Missense_Mutation_p.S7I|FRMD8_ENST00000531296.1_Missense_Mutation_p.S7I	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	7						cytoskeleton	binding	p.S7I(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						ACAGAAGGCAGTGCCGGGCAG	0.657000													94	192					1.25848e-56	1.6004e-56	0.003610	1	0
ZNF616	90317	broad.mit.edu	37	19	52619760	52619760	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:52619760G>T	ENST00000600228.1	-	4	918	c.657C>A	c.(655-657)ggC>ggA	p.G219G	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G219G(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GAAAGGCTTTGCCACACTCAT	0.393000													6	175					3.59834e-05	3.96287e-05	0.001168	1	0
SLC39A12	221074	broad.mit.edu	37	10	18292133	18292133	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr10:18292133C>G	ENST00000377369.2	+	12	2066	c.1793C>G	c.(1792-1794)tCt>tGt	p.S598C	SLC39A12_ENST00000377374.4_Missense_Mutation_p.S561C|SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12_ENST00000539911.1_Missense_Mutation_p.S464C|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S597C	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	598					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.S561C(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCTGGACTTTCTATGAAGACT	0.408000													20	182					0	0	0.010504	0	0
FAM86C1	55199	broad.mit.edu	37	11	71507261	71507261	+	Missense_Mutation	SNP	A	A	G	rs111708284	by1000genomes	TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:71507261A>G	ENST00000528685.1	+	3	358	c.358A>G	c.(358-360)Aca>Gca	p.T120A	FAM86C1_ENST00000426628.2_Intron|FAM86C1_ENST00000359244.4_Intron|FAM86C1_ENST00000346333.6_Intron			Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	0										lung(1)	1						AGCTGTCCCTACAGGACTCCA	0.627000													20	200					0	0	0.008361	0	0
ASNS	440	broad.mit.edu	37	7	97486051	97486051	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:97486051G>A	ENST00000175506.4	-	9	1509	c.981C>T	c.(979-981)gtC>gtT	p.V327V	ASNS_ENST00000422745.1_Silent_p.V306V|ASNS_ENST00000455086.1_Silent_p.V244V|ASNS_ENST00000394309.3_Silent_p.V327V|ASNS_ENST00000394308.3_Silent_p.V327V|ASNS_ENST00000444334.1_Silent_p.V306V|ASNS_ENST00000437628.1_Silent_p.V244V	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	327	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	p.V327V(2)		ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGGAAAATATGACTTCATCCA	0.318000													18	158					0	0	0.007413	0	0
CCDC146	57639	broad.mit.edu	37	7	76889471	76889471	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:76889471G>C	ENST00000285871.4	+	8	1031	c.904G>C	c.(904-906)Gaa>Caa	p.E302Q	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Missense_Mutation_p.E48Q	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	302								p.E302Q(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AGCCTTACTTGAAATCAAAGA	0.348000													30	70					0	0	0.003271	0	0
C16orf45	89927	broad.mit.edu	37	16	15677017	15677017	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr16:15677017C>A	ENST00000300006.4	+	5	783	c.424C>A	c.(424-426)Caa>Aaa	p.Q142K	C16orf45_ENST00000565913.1_3'UTR|C16orf45_ENST00000452191.2_Missense_Mutation_p.Q125K|C16orf45_ENST00000561692.1_Missense_Mutation_p.Q94K|C16orf45_ENST00000566490.1_Intron	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	142								p.Q142K(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						TCACAGGGAGCAAGAAGAAGA	0.378000													44	224					3.05275e-18	3.741e-18	0.003214	1	0
MGAT3	4248	broad.mit.edu	37	22	39883979	39883979	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr22:39883979C>G	ENST00000341184.6	+	2	842	c.627C>G	c.(625-627)atC>atG	p.I209M		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	209					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	p.I209M(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GCCGCGTCATCAACGCCATCA	0.657000													4	21					0	0	0.009096	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222842	140222842	+	Missense_Mutation	SNP	C	C	T	rs146582216		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:140222842C>T	ENST00000531613.1	+	1	1936	c.1936C>T	c.(1936-1938)Cgt>Tgt	p.R646C	PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R646C|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1												p.R646C(4)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGCGCCACCGTCTGCTGGT	0.662000													18	213					0	0	0.006122	0	0
TRIM7	81786	broad.mit.edu	37	5	180622504	180622504	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:180622504C>G	ENST00000393315.1	-	7	1271	c.574G>C	c.(574-576)Gag>Cag	p.E192Q	CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000361809.3_Missense_Mutation_p.E192Q|TRIM7_ENST00000422067.2_Missense_Mutation_p.E192Q|TRIM7_ENST00000393319.3_Missense_Mutation_p.E218Q|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000274773.7_Missense_Mutation_p.E400Q	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	400						cytoplasm|nucleus	zinc ion binding	p.E400Q(2)		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)		ACCTCCACCTCCCAGTGATGC	0.716000													12	37					0	0	0.003163	0	0
GDAP2	54834	broad.mit.edu	37	1	118420645	118420645	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:118420645C>T	ENST00000369443.4	-	13	1681	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	GDAP2_ENST00000369442.3_Missense_Mutation_p.E478K	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	478	CRAL-TRIO.							p.E478K(2)		kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		GCATCATATTCAAGGACAAAA	0.453000													12	110					0	0	0.004007	0	0
C2orf47	79568	broad.mit.edu	37	2	200824033	200824033	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:200824033G>C	ENST00000295079.2	+	3	815	c.493G>C	c.(493-495)Gat>Cat	p.D165H	C2orf47_ENST00000392290.1_Missense_Mutation_p.D165H|C2orf47_ENST00000469156.1_3'UTR	NM_024520.2	NP_078796.2	Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	165						mitochondrion		p.D165H(2)		cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						GTGTAAATTTGATCTGTTGGA	0.323000													18	136					0	0	0.008871	0	0
DKK2	27123	broad.mit.edu	37	4	107845160	107845160	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr4:107845160T>C	ENST00000285311.3	-	4	1436	c.731A>G	c.(730-732)gAt>gGt	p.D244G	DKK2_ENST00000513208.1_Missense_Mutation_p.D144G|DKK2_ENST00000510463.1_Missense_Mutation_p.D198G	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	244	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		p.D244G(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GTAGGTGGCATCTTTCCATAC	0.458000													31	253					0	0	0.002096	0	0
USP34	9736	broad.mit.edu	37	2	61538783	61538783	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:61538783G>C	ENST00000398571.2	-	27	3785	c.3709C>G	c.(3709-3711)Ctt>Gtt	p.L1237V		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1237					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.L1237V(2)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCAGCCCTAAGATCTGCTACC	0.353000													8	91					0	0	0.004482	0	0
NLRP13	126204	broad.mit.edu	37	19	56423835	56423835	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:56423835G>C	ENST00000588751.1	-	5	1372	c.1348C>G	c.(1348-1350)Cag>Gag	p.Q450E	NLRP13_ENST00000342929.3_Missense_Mutation_p.Q450E			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	450	NACHT.						ATP binding	p.Q450E(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GTGGTAGTCTGAGTGATTGAC	0.502000													18	121					0	0	0.010504	0	0
GARS	2617	broad.mit.edu	37	7	30661020	30661020	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:30661020G>A	ENST00000389266.3	+	11	1612	c.1371G>A	c.(1369-1371)gaG>gaA	p.E457E		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	457					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	p.E457E(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GTTGGATTGAGATTGTTGGAT	0.368000													48	229					0	0	0.003214	0	0
POLK	51426	broad.mit.edu	37	5	74880722	74880722	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:74880722C>T	ENST00000241436.4	+	9	1369	c.1197C>T	c.(1195-1197)tcC>tcT	p.S399S	POLK_ENST00000380481.3_Silent_p.S309S|POLK_ENST00000508526.1_Intron|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000504026.1_Silent_p.S399S|POLK_ENST00000515295.1_Silent_p.S399S|POLK_ENST00000352007.5_Intron	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	399					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	p.S399S(4)		endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TTCATATCTCCTTGGGTCTAG	0.388000								DNA polymerases (catalytic subunits)					8	208					0	0	0.006214	0	0
TRRAP	8295	broad.mit.edu	37	7	98497313	98497313	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:98497313G>A	ENST00000359863.4	+	10	932	c.723G>A	c.(721-723)ctG>ctA	p.L241L	TRRAP_ENST00000355540.3_Silent_p.L241L|TRRAP_ENST00000446306.3_Silent_p.L241L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	241					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.L241L(4)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCTACAAACTGAACATCCACA	0.443000													51	116					0	0	0.003610	0	0
FMN2	56776	broad.mit.edu	37	1	240497523	240497523	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:240497523T>G	ENST00000319653.9	+	13	4989	c.4759T>G	c.(4759-4761)Ttg>Gtg	p.L1587V	FMN2_ENST00000545751.1_Missense_Mutation_p.L183V	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1587	FH2.				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	p.L1730V(2)		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)			GAAGAAAGACTTGAAAGGTAA	0.353000													19	305					0	0	0.010504	0	0
GSDMD	79792	broad.mit.edu	37	8	144642079	144642079	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr8:144642079C>T	ENST00000526406.1	+	6	1233	c.350C>T	c.(349-351)tCa>tTa	p.S117L	GSDMD_ENST00000262580.4_Missense_Mutation_p.S117L|GSDMD_ENST00000533063.1_Missense_Mutation_p.S165L	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	117								p.S117L(1)		breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						TCCAGCACCTCAATGAATGTG	0.637000													12	48					0	0	0.001855	0	0
LGALS9	3965	broad.mit.edu	37	17	25967714	25967714	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr17:25967714G>T	ENST00000395473.2	+	3	1716	c.248G>T	c.(247-249)gGg>gTg	p.G83V	LGALS9_ENST00000448970.2_3'UTR|LGALS9_ENST00000413914.2_Missense_Mutation_p.G26V|LGALS9_ENST00000313648.6_Missense_Mutation_p.G83V|AC015688.3_ENST00000584605.1_3'UTR|LGALS9_ENST00000302228.5_Missense_Mutation_p.G83V|LGALS9_ENST00000310394.5_Missense_Mutation_p.G83V	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	83	Beta-galactoside binding 1.|Galectin 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	p.G83V(2)		endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GGAAGCTGGGGGCCCGAGGAG	0.547000													57	255					7.73544e-29	9.72703e-29	0.003610	1	0
OR7A5	26659	broad.mit.edu	37	19	14938176	14938176	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:14938176C>A	ENST00000322301.3	-	2	965	c.878G>T	c.(877-879)aGg>aTg	p.R293M	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.R293M			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293M(2)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GTCTTTATTCCTCAGACTATA	0.468000													25	89					5.61819e-17	6.83512e-17	0.005443	1	0
IWS1	55677	broad.mit.edu	37	2	128263325	128263325	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:128263325C>A	ENST00000295321.4	-	3	413	c.154G>T	c.(154-156)Gaa>Taa	p.E52*	IWS1_ENST00000486662.1_5'UTR|IWS1_ENST00000455721.2_Nonsense_Mutation_p.E59*|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	52					transcription, DNA-dependent	nucleus	DNA binding	p.E52*(2)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TCACTAGTTTCATTCTGAAAA	0.308000													20	210					1.00905e-13	1.21014e-13	0.008871	1	0
ACTN2	88	broad.mit.edu	37	1	236908017	236908017	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:236908017C>G	ENST00000366578.4	+	12	1513	c.1347C>G	c.(1345-1347)agC>agG	p.S449R	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.S449R	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	449					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	p.S449R(2)		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)			CGTTCGAGAGCGACCTGGCAG	0.642000													17	73					0	0	0.004990	0	0
MCTP1	79772	broad.mit.edu	37	5	94248517	94248517	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:94248517C>G	ENST00000515393.1	-	9	1514	c.1515G>C	c.(1513-1515)aaG>aaC	p.K505N	MCTP1_ENST00000505208.1_Missense_Mutation_p.K284N|MCTP1_ENST00000505078.1_Missense_Mutation_p.K21N|MCTP1_ENST00000429576.2_Missense_Mutation_p.K238N|MCTP1_ENST00000312216.8_Missense_Mutation_p.K284N	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	505	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.K505N(2)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTACCTTGCTCTTGTACTTCT	0.458000													25	100					0	0	0.005443	0	0
LTBP4	8425	broad.mit.edu	37	19	41105459	41105459	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:41105459T>G	ENST00000308370.7	+	3	338	c.338T>G	c.(337-339)cTg>cGg	p.L113R	LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.L76R|LTBP4_ENST00000545697.1_5'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	113					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	p.L113R(2)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGCAGCCACTGACGTGAGTG	0.637000													49	377					0	0	0.003610	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													4	78					0	0	0.009096	0	0
DNAH8	1769	broad.mit.edu	37	6	38790666	38790666	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr6:38790666G>T	ENST00000359357.3	+	25	3179	c.2925G>T	c.(2923-2925)ggG>ggT	p.G975G	DNAH8_ENST00000449981.2_Silent_p.G1192G|DNAH8_ENST00000441566.1_Silent_p.G975G					dynein, axonemal, heavy chain 8									p.G975G(4)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTACCCGGGGGTAGCGGAGC	0.413000													10	58					0.00621372	0.00660575	0.006214	1	0
CCDC60	160777	broad.mit.edu	37	12	119916949	119916949	+	Missense_Mutation	SNP	G	G	A	rs144234053		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr12:119916949G>A	ENST00000327554.2	+	4	857	c.392G>A	c.(391-393)cGc>cAc	p.R131H	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	131								p.R131H(3)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GTCACACGTCGCCCATTCACT	0.473000													5	59					0	0	0.001984	0	0
HOXB1	3211	broad.mit.edu	37	17	46608134	46608134	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr17:46608134C>T	ENST00000239174.6	-	1	225	c.133G>A	c.(133-135)Gag>Aag	p.E45K	HOXB1_ENST00000577092.1_Missense_Mutation_p.E45K	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	45						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	p.E45K(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TAGCGGCCCTCGCTTGCATAG	0.682000													38	109					0	0	0.006230	0	0
AP4B1	10717	broad.mit.edu	37	1	114438396	114438396	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:114438396G>T	ENST00000369569.1	-	9	2055	c.1775C>A	c.(1774-1776)tCa>tAa	p.S592*	AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000256658.4_Nonsense_Mutation_p.S592*|AP4B1_ENST00000369567.1_Nonsense_Mutation_p.S424*|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	592					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	p.S592*(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCAAAGGATGAAGTTTTAGG	0.443000													19	88					6.33239e-15	7.67631e-15	0.010504	1	0
GPATCH1	55094	broad.mit.edu	37	19	33581687	33581687	+	Splice_Site	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:33581687A>G	ENST00000170564.2	+	3	524	c.208_splice	c.e3-1	p.G70_splice		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	70						catalytic step 2 spliceosome	nucleic acid binding	p.G70G(2)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TTTTTTCAGGATGGACACCCT	0.373000													9	153					0	0	0.008291	0	0
MOCS3	27304	broad.mit.edu	37	20	49575979	49575979	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr20:49575979C>T	ENST00000244051.1	+	1	617	c.600C>T	c.(598-600)ctC>ctT	p.L200L		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	200					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	p.L200L(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						GTCGGCCCCTCGTGTCTGCCA	0.602000													19	79					0	0	0.006122	0	0
EML2	24139	broad.mit.edu	37	19	46116895	46116895	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:46116895G>C	ENST00000536630.1	-	21	2307	c.2169C>G	c.(2167-2169)atC>atG	p.I723M	EML2_ENST00000589876.1_Missense_Mutation_p.I576M|EML2_ENST00000587152.1_Missense_Mutation_p.I777M|EML2_ENST00000245925.3_Missense_Mutation_p.I576M	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	576					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	p.I576M(2)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CCACAGCGTTGATATCAGTGC	0.567000													11	183					0	0	0.003163	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555201	44555201	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr18:44555201C>T	ENST00000330682.2	-	1	1248	c.1013G>A	c.(1012-1014)cGc>cAc	p.R338H	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	338	Activation domain (By similarity).|Interaction with elongin BC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GCACTGCTGGCGCAGCGTCGG	0.652000													13	1225					0	0	0.006214	0	0
PNPLA7	375775	broad.mit.edu	37	9	140441330	140441330	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr9:140441330G>A	ENST00000406427.1	-	4	561	c.225C>T	c.(223-225)ttC>ttT	p.F75F	PNPLA7_ENST00000277531.4_Silent_p.F50F	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	50					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	p.F50F(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CTCTCTTCCGGAACCGGTACT	0.612000													21	85					0	0	0.003954	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	92					0	0	0.001984	0	0
PTBP3	9991	broad.mit.edu	37	9	115024748	115024748	+	Silent	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr9:115024748G>C	ENST00000334318.6	-	6	762	c.576C>G	c.(574-576)ctC>ctG	p.L192L	PTBP3_ENST00000487997.1_5'UTR|PTBP3_ENST00000374255.2_Silent_p.L189L|PTBP3_ENST00000458258.1_Silent_p.L195L|PTBP3_ENST00000374257.1_Silent_p.L161L|PTBP3_ENST00000343327.2_Silent_p.L94L	NM_001163790.2|NM_005156.6	NP_001157262.1|NP_005147.3	O95758	ROD1_HUMAN	polypyrimidine tract binding protein 3	189	RRM 2.				anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding	p.L189L(2)									CAGGGTAAAAGAGGTTTTCAA	0.433000													36	119					0	0	0.003755	0	0
PREPL	9581	broad.mit.edu	37	2	44569580	44569580	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:44569580C>T	ENST00000541738.1	-	5	847	c.461G>A	c.(460-462)cGc>cAc	p.R154H	PREPL_ENST00000409411.1_Missense_Mutation_p.R154H|PREPL_ENST00000409957.1_Missense_Mutation_p.R154H|PREPL_ENST00000260648.6_Missense_Mutation_p.R243H|PREPL_ENST00000378511.3_Missense_Mutation_p.R243H|PREPL_ENST00000378520.3_Missense_Mutation_p.R243H|PREPL_ENST00000409936.1_Missense_Mutation_p.R243H|PREPL_ENST00000410081.1_Missense_Mutation_p.R243H|PREPL_ENST00000409272.1_Missense_Mutation_p.R243H	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	243					proteolysis	cytosol	serine-type endopeptidase activity	p.R243H(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGTGTAAAAGCGTTCATTACG	0.378000													39	117					0	0	0.003214	0	0
GOLGA4	2803	broad.mit.edu	37	3	37396654	37396654	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:37396654G>T	ENST00000361924.2	+	22	7013	c.6639G>T	c.(6637-6639)ttG>ttT	p.L2213F	GOLGA4_ENST00000356847.4_Missense_Mutation_p.L2228F|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2213	GRIP.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	p.L2213_E2214>F*(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGAAAATTTTGGAAAGAGAAG	0.388000													20	106					1.28384e-07	1.45186e-07	0.001882	1	0
MACF1	23499	broad.mit.edu	37	1	39797800	39797800	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:39797800C>T	ENST00000564288.1	+	37	6317	c.5540C>T	c.(5539-5541)tCa>tTa	p.S1847L	MACF1_ENST00000289893.4_Missense_Mutation_p.S287L|MACF1_ENST00000372915.3_Missense_Mutation_p.S1852L|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.S1884L|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1852					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.S287L(2)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCCTCTGGTCATTCATGGGG	0.463000													34	151					0	0	0.002445	0	0
NAV3	89795	broad.mit.edu	37	12	78583831	78583831	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr12:78583831G>T	ENST00000397909.2	+	34	6296	c.6123G>T	c.(6121-6123)agG>agT	p.R2041S	NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000228327.6_Missense_Mutation_p.R2019S|NAV3_ENST00000266692.7_Missense_Mutation_p.R1842S|NAV3_ENST00000536525.2_Missense_Mutation_p.R2019S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2041						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.R2019S(2)		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						TTACCCAAAGGTACTTTAACT	0.348000										HNSCC(70;0.22)			7	110					0.000442599	0.000478064	0.006214	1	0
PSD3	23362	broad.mit.edu	37	8	18430067	18430067	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr8:18430067G>A	ENST00000440756.2	-	14	2863	c.2761C>T	c.(2761-2763)Ctg>Ttg	p.L921L	PSD3_ENST00000327040.8_Silent_p.L919L|PSD3_ENST00000523619.1_Silent_p.L854L|PSD3_ENST00000286485.8_Silent_p.L385L|PSD3_ENST00000428502.2_Silent_p.L248L			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	920					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.L921L(2)|p.L385L(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GTGGCAGGCAGAAGTGGGCGG	0.408000													21	87					0	0	0.003954	0	0
KIF15	56992	broad.mit.edu	37	3	44894219	44894219	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:44894219G>A	ENST00000326047.4	+	35	4308	c.4159G>A	c.(4159-4161)Gaa>Aaa	p.E1387K	KIF15_ENST00000425755.1_Missense_Mutation_p.E1022K	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1387					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	p.E1387K(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GAAAAGAAGTGAATCTTGAGG	0.353000													7	78					0	0	0.001984	0	0
HCN1	348980	broad.mit.edu	37	5	45267266	45267266	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:45267266T>A	ENST00000303230.4	-	7	1765	c.1708A>T	c.(1708-1710)Aac>Tac	p.N570Y		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	570						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.N570Y(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGGACCTCGTTGAAATTGTCC	0.433000													9	198					0	0	0.006214	0	0
ERI3	79033	broad.mit.edu	37	1	44785335	44785335	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:44785335C>T	ENST00000372257.2	-	4	752	c.571G>A	c.(571-573)Gta>Ata	p.V191I	ERI3_ENST00000537474.1_Missense_Mutation_p.V14I|ERI3_ENST00000372259.5_Missense_Mutation_p.V76I|ERI3_ENST00000495828.1_5'UTR	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	191	Exonuclease.					intracellular	exonuclease activity|metal ion binding|nucleic acid binding	p.V191I(2)		endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGATGGACTACAGGCTGGACA	0.517000													18	215					0	0	0.007413	0	0
ZBBX	79740	broad.mit.edu	37	3	166958699	166958699	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:166958699C>T	ENST00000392766.2	-	21	2625	c.2285G>A	c.(2284-2286)gGa>gAa	p.G762E	ZBBX_ENST00000392764.1_Missense_Mutation_p.G733E|ZBBX_ENST00000307529.5_Missense_Mutation_p.G801E|ZBBX_ENST00000392767.2_Missense_Mutation_p.G762E|ZBBX_ENST00000455345.2_Missense_Mutation_p.G801E	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	762						intracellular	zinc ion binding	p.G801E(2)|p.G762E(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GGTATCTCTTCCAGAACAGCT	0.378000													19	79					0	0	0.006122	0	0
CHRNA4	1137	broad.mit.edu	37	20	61982028	61982028	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr20:61982028G>T	ENST00000370263.4	-	5	956	c.735C>A	c.(733-735)ttC>ttA	p.F245L	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	245					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.F245L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TGATGGTGTAGAAGAGCGGCA	0.592000													13	58					1.67942e-08	1.93823e-08	0.006122	1	0
ZFHX3	463	broad.mit.edu	37	16	72821294	72821294	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr16:72821294C>T	ENST00000268489.5	-	10	11553	c.10881G>A	c.(10879-10881)gcG>gcA	p.A3627A	ZFHX3_ENST00000397992.5_Silent_p.A2713A	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3627					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.A3627A(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AAGGGGGCTTCGCTGCCGAAG	0.637000													15	39					0	0	0.004990	0	0
GCAT	23464	broad.mit.edu	37	22	38211697	38211697	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr22:38211697T>C	ENST00000323205.6	+	7	983	c.920T>C	c.(919-921)cTg>cCg	p.L307P	GCAT_ENST00000248924.6_Missense_Mutation_p.L281P	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	281					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.L281P(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CCTGGGCCCCTGGTGTCCCTG	0.652000													23	190					0	0	0.002299	0	0
KLHL15	80311	broad.mit.edu	37	X	24006555	24006555	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chrX:24006555C>G	ENST00000328046.8	-	4	1553	c.1298G>C	c.(1297-1299)gGa>gCa	p.G433A		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	433								p.G433A(2)		autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						TGAGGTGATTCCACCGGTGAT	0.453000													66	82					0	0	0.003610	0	0
JAKMIP2	9832	broad.mit.edu	37	5	146997641	146997641	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:146997641G>C	ENST00000265272.5	-	19	2646	c.2179C>G	c.(2179-2181)Cta>Gta	p.L727V	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.L685V|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.L706V	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	727						Golgi apparatus		p.L727V(2)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTGCTGTAGAGCATTGTAC	0.408000													21	136					0	0	0.002299	0	0
UQCRQ	27089	broad.mit.edu	37	5	132203218	132203218	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:132203218G>C	ENST00000378670.3	+	3	334	c.193G>C	c.(193-195)Gaa>Caa	p.E65Q	UQCRQ_ENST00000378667.1_Missense_Mutation_p.E65Q|UQCRQ_ENST00000496429.1_3'UTR|UQCRQ_ENST00000378665.1_Missense_Mutation_p.E65Q	NM_014402.4	NP_055217.2	O14949	QCR8_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa	65					respiratory electron transport chain	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity	p.E65Q(2)		lung(3)	3		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGGGGGACTGAAGAGTTCGA	0.388000													10	64					0	0	0.008291	0	0
RIF1	55183	broad.mit.edu	37	2	152295239	152295239	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:152295239G>A	ENST00000243326.4	+	13	2008	c.1525G>A	c.(1525-1527)Gtg>Atg	p.V509M	RIF1_ENST00000428287.2_Missense_Mutation_p.V509M|RIF1_ENST00000453091.2_Missense_Mutation_p.V509M|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000430328.2_Missense_Mutation_p.V509M|RIF1_ENST00000444746.2_Missense_Mutation_p.V509M			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	509					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	p.V509M(2)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AATTAGCTTGGTGAAGTCAGT	0.348000													18	63					0	0	0.007413	0	0
KIN	22944	broad.mit.edu	37	10	7820880	7820880	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr10:7820880T>A	ENST00000379562.3	-	5	526	c.479A>T	c.(478-480)aAg>aTg	p.K160M	KIN_ENST00000535925.1_Missense_Mutation_p.K160M|KIN_ENST00000543003.1_Missense_Mutation_p.K54M			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	160					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding	p.K160M(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AAGGTCCTGCTTTTTCTTTTT	0.453000													35	274					0	0	0.002836	0	0
FBXO41	150726	broad.mit.edu	37	2	73486384	73486384	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:73486384C>T	ENST00000521871.1	-	12	2905	c.2490G>A	c.(2488-2490)ggG>ggA	p.G830G	FBXO41_ENST00000520530.2_Silent_p.G830G|FBXO41_ENST00000295133.5_Silent_p.G891G			Q8TF61	FBX41_HUMAN	F-box protein 41	830						intracellular	protein binding|zinc ion binding	p.G454G(1)|p.G830G(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						AATCCGCAATCCCAATCTGGA	0.557000													14	113					0	0	0.002450	0	0
TMEM108	66000	broad.mit.edu	37	3	133099400	133099400	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:133099400G>A	ENST00000515826.1	+	3	968	c.845G>A	c.(844-846)aGa>aAa	p.R282K	TMEM108_ENST00000393130.3_Missense_Mutation_p.R282K|TMEM108_ENST00000321871.6_Missense_Mutation_p.R282K|TMEM108_ENST00000508711.1_Intron			Q6UXF1	TM108_HUMAN	transmembrane protein 108	282						integral to membrane		p.R282K(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCCTTCGCAGAGCAGCCCAG	0.647000													13	62					0	0	0.004990	0	0
KLKB1	3818	broad.mit.edu	37	4	187149394	187149394	+	Silent	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr4:187149394T>A	ENST00000264690.6	+	2	232	c.45T>A	c.(43-45)gcT>gcA	p.A15A	KLKB1_ENST00000513864.1_Silent_p.A15A	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	15					blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	p.A15A(4)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CCTTGTTTGCTACAGTTTCCT	0.353000													7	30					0	0	0.003080	0	0
MAP3K1	4214	broad.mit.edu	37	5	56183268	56183268	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:56183268C>G	ENST00000399503.3	+	18	4178	c.4178C>G	c.(4177-4179)gCc>gGc	p.A1393G		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1393	Protein kinase.				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	p.A1230G(2)|p.A1393G(2)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GGAGCTGCAGCCAGGTTGGCA	0.443000													11	158					0	0	0.001368	0	0
EPPK1	83481	broad.mit.edu	37	8	144940551	144940551	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr8:144940551C>T	ENST00000525985.1	-	2	6942	c.6871G>A	c.(6871-6873)Gtg>Atg	p.V2291M				P58107	EPIPL_HUMAN	epiplakin 1	2291						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.V2291M(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCGCCCACCACGCCCGCGGCC	0.721000													4	42					0	0	0.009096	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137225	40137225	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:40137225C>A	ENST00000278198.2	-	2	2581	c.618G>T	c.(616-618)atG>atT	p.M206I	LRRC4C_ENST00000528697.1_Missense_Mutation_p.M206I|LRRC4C_ENST00000527150.1_Missense_Mutation_p.M206I|LRRC4C_ENST00000530763.1_Missense_Mutation_p.M206I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	206					regulation of axonogenesis	integral to membrane	protein binding	p.M206I(2)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAAGGTTGCACATGGCAAGGT	0.463000													19	141					8.10497e-08	9.2589e-08	0.010504	1	0
C12orf56	115749	broad.mit.edu	37	12	64678484	64678484	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr12:64678484C>G	ENST00000543942.2	-	8	1896	c.1270G>C	c.(1270-1272)Gaa>Caa	p.E424Q	C12orf56_ENST00000536975.1_5'UTR|C12orf56_ENST00000333722.5_Missense_Mutation_p.E264Q|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	427								p.E264Q(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		GACTCGGTTTCTGTTTCTCTG	0.373000													6	21					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179605502	179605502	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:179605502T>A	ENST00000589042.1	-	48	12682	c.12458A>T	c.(12457-12459)cAg>cTg	p.Q4153L	TTN_ENST00000591111.1_Missense_Mutation_p.Q3836L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q3790L|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.Q3982L|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q3915L|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3836							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Q3915L(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTACAATCTGCAGCTGTAG	0.458000													50	207					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9068944	9068944	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:9068944C>G	ENST00000397910.4	-	3	18705	c.18502G>C	c.(18502-18504)Ggc>Cgc	p.G6168R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6170	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G6168R(4)|p.G1801R(2)		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						GTCAGTTGGCCAAGAGATGTC	0.488000													23	76					0	0	0.002299	0	0
DFNA5	1687	broad.mit.edu	37	7	24756942	24756942	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:24756942C>A	ENST00000545231.1	-	7	1286	c.136G>T	c.(136-138)Gag>Tag	p.E46*	DFNA5_ENST00000409775.3_Nonsense_Mutation_p.E210*|DFNA5_ENST00000342947.3_Nonsense_Mutation_p.E210*|DFNA5_ENST00000419307.1_Nonsense_Mutation_p.E46*|DFNA5_ENST00000409970.1_Nonsense_Mutation_p.E46*|DFNA5_ENST00000559637.1_5'UTR			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	210					sensory perception of sound			p.E210*(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GCTGGGATCTCCAGCACCACG	0.587000													17	91					0.00400662	0.00427289	0.004007	1	0
COBL	23242	broad.mit.edu	37	7	51261203	51261203	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:51261203G>A	ENST00000395542.2	-	3	513	c.329C>T	c.(328-330)tCa>tTa	p.S110L	COBL_ENST00000395540.2_Missense_Mutation_p.S110L|COBL_ENST00000441453.1_Missense_Mutation_p.S110L|COBL_ENST00000265136.7_Missense_Mutation_p.S110L			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	110								p.S110L(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTGGGTTTCTGAAGACCGAAT	0.423000													22	87					0	0	0.002299	0	0
ABCA13	154664	broad.mit.edu	37	7	48563896	48563896	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:48563896G>A	ENST00000435803.1	+	54	14128	c.14104G>A	c.(14104-14106)Gaa>Aaa	p.E4702K	ABCA13_ENST00000544596.1_Missense_Mutation_p.E432K	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4702					transport	integral to membrane	ATP binding|ATPase activity	p.E4647K(2)|p.E4702K(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TACAGATGTTGAAAAAGAGGA	0.383000													6	27					0	0	0.004482	0	0
TTC8	123016	broad.mit.edu	37	14	89338775	89338775	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr14:89338775G>A	ENST00000338104.6	+	13	1426	c.1374G>A	c.(1372-1374)atG>atA	p.M458I	TTC8_ENST00000380656.2_Missense_Mutation_p.M442I|TTC8_ENST00000345383.5_Missense_Mutation_p.M432I|TTC8_ENST00000346301.4_Missense_Mutation_p.M402I|TTC8_ENST00000536576.1_Missense_Mutation_p.M203I|TTC8_ENST00000354441.6_Missense_Mutation_p.M177I|TTC8_ENST00000358622.5_Missense_Mutation_p.M244I			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	468					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	p.M442I(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGCTGGAGATGCGGAAGGGCC	0.532000													35	137					0	0	0.005524	0	0
OR2M4	26245	broad.mit.edu	37	1	248403046	248403046	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:248403046G>C	ENST00000306687.1	+	1	816	c.816G>C	c.(814-816)aaG>aaC	p.K272N		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K272N(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACCAGGACAAGATGGTGTCGG	0.502000													13	117					0	0	0.001855	0	0
PCLO	27445	broad.mit.edu	37	7	82763878	82763878	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:82763878C>T	ENST00000423517.2	-	3	3325	c.2988G>A	c.(2986-2988)gtG>gtA	p.V996V	PCLO_ENST00000333891.8_Silent_p.V996V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	942					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.V996V(4)|p.V942V(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTCCTTTTTCACAGGTATAC	0.468000													21	52					0	0	0.001882	0	0
OPLAH	26873	broad.mit.edu	37	8	145106271	145106271	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr8:145106271G>A	ENST00000426825.1	-	28	3904	c.3823C>T	c.(3823-3825)Cac>Tac	p.H1275Y	CTD-3065J16.6_ENST00000528912.1_RNA|OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1275							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	p.H1274Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	ACGCTGCCGTGCTCGGGAAAG	0.682000													6	20					0	0	0.001984	0	0
PPP6R3	55291	broad.mit.edu	37	11	68377414	68377414	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:68377414A>C	ENST00000393799.2	+	24	2778	c.2511A>C	c.(2509-2511)aaA>aaC	p.K837N	PPP6R3_ENST00000534534.1_Missense_Mutation_p.K599N|PPP6R3_ENST00000265637.4_Missense_Mutation_p.K785N|PPP6R3_ENST00000527403.2_Missense_Mutation_p.K796N|PPP6R3_ENST00000524904.1_Missense_Mutation_p.K825N|PPP6R3_ENST00000393800.2_Missense_Mutation_p.K831N|PPP6R3_ENST00000529710.1_Missense_Mutation_p.K751N|PPP6R3_ENST00000393801.3_Missense_Mutation_p.K837N|PPP6R3_ENST00000265636.5_Missense_Mutation_p.K751N|PPP6R3_ENST00000524845.1_Missense_Mutation_p.K802N			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	831					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	p.K837N(2)|p.K751N(2)		breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTGCTTGTAAAGACGCAGAGG	0.592000													60	140					0	0	0.003610	0	0
DNAJC13	23317	broad.mit.edu	37	3	132196902	132196902	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:132196902C>A	ENST00000260818.6	+	24	2875	c.2627C>A	c.(2626-2628)gCc>gAc	p.A876D		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	876							heat shock protein binding	p.A259D(1)|p.A876D(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TGTTTACAAGCCCTTGCTATT	0.333000													10	112					0.000673444	0.000720478	0.008291	1	0
ZFPM2	23414	broad.mit.edu	37	8	106813279	106813279	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr8:106813279G>A	ENST00000407775.2	+	8	1219	c.969G>A	c.(967-969)gtG>gtA	p.V323V	RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.V191V|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.V191V|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.V54V|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	323					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.V323V(2)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTCTAGGAGTGAAAATGGAAG	0.418000													50	196					0	0	0.003610	0	0
TRA2A	29896	broad.mit.edu	37	7	23571409	23571409	+	Splice_Site	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:23571409C>G	ENST00000297071.4	-	1	251	c.36_splice	c.e1+1	p.R12_splice	TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000538367.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	12					nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding	p.R12T(2)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TGTACTCACTCTGCCCTCGAA	0.612000													12	99					0	0	0.003163	0	0
BAGE2	85319	broad.mit.edu	37	21	11047567	11047567	+	RNA	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr21:11047567C>T	ENST00000470054.1	-	0	687									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTATCACACACTAGCATCTTG	0.338000													17	680					0	0	0.007413	0	0
CYFIP2	26999	broad.mit.edu	37	5	156755057	156755057	+	Splice_Site	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:156755057G>T	ENST00000347377.6	+	19	2587	c.2156_splice	c.e19+1	p.S719_splice	CYFIP2_ENST00000541131.1_Splice_Site_p.S644_splice|CYFIP2_ENST00000521420.1_Splice_Site_p.S693_splice|CYFIP2_ENST00000442283.2_Splice_Site_p.S4_splice|CYFIP2_ENST00000435847.2_Splice_Site_p.S418_splice|CYFIP2_ENST00000377576.3_Splice_Site_p.S719_splice|CYFIP2_ENST00000318218.6_Splice_Site_p.S744_splice|CYFIP2_ENST00000522463.1_Splice_Site_p.S523_splice	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	744					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	p.S744I(4)|p.S719I(2)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGGCTGGCAGGTAGGAAAGC	0.468000													13	83					7.93312e-07	8.85252e-07	0.002450	1	0
DNAJC1	64215	broad.mit.edu	37	10	22048380	22048380	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr10:22048380C>T	ENST00000376980.3	-	11	1605	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N		NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	439					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	p.D439N(2)		cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				GGCCGGGCATCAGTGGCCCCG	0.662000													6	47					0	0	0.001984	0	0
SLC26A3	1811	broad.mit.edu	37	7	107416977	107416977	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:107416977C>T	ENST00000340010.5	-	15	1781	c.1597G>A	c.(1597-1599)Gaa>Aaa	p.E533K	SLC26A3_ENST00000422236.2_Missense_Mutation_p.E498K	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	533	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.E533K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTCACTCCTTCTGGCTCATAC	0.378000													11	124					0	0	0.000978	0	0
SMAD4	4089	broad.mit.edu	37	18	48573361	48573361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr18:48573361C>T	ENST00000590722.2	+	3	333	c.229C>T	c.(229-231)Caa>Taa	p.Q77*	SMAD4_ENST00000398417.2_5'UTR|SMAD4_ENST00000452201.2_5'UTR|RP11-729L2.2_ENST00000588256.1_3'UTR|SMAD4_ENST00000342988.3_5'UTR																							TCCAAAGGATCAAAATTGCTT	0.308000													17	34					0	0	0.004007	0	0
ULBP3	79465	broad.mit.edu	37	6	150385794	150385794	+	Silent	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr6:150385794G>C	ENST00000367339.1	-	4	712	c.684C>G	c.(682-684)ctC>ctG	p.L228L	ULBP3_ENST00000438272.2_Silent_p.L228L			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	228					antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity	p.L228L(2)		central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		TCCAGGGACTGAGGGTGGTGG	0.527000													15	126					0	0	0.004990	0	0
AMN	81693	broad.mit.edu	37	14	103390271	103390271	+	Splice_Site	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr14:103390271G>A	ENST00000299155.5	+	3	195		c.e3-1			NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein						lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane		p.?(1)		kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTTCCTGCAGATGGTGTCAG	0.667000													46	153					0	0	0.003610	0	0
CCDC88A	55704	broad.mit.edu	37	2	55546020	55546020	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:55546020C>T	ENST00000436346.1	-	19	4124	c.3283G>A	c.(3283-3285)Gaa>Aaa	p.E1095K	CCDC88A_ENST00000413716.2_Missense_Mutation_p.E1094K|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E1094K|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E1095K|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1095					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	p.E1094K(2)|p.E1095K(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTATTCTGTTCTTGTAATGAC	0.368000													31	171					0	0	0.002445	0	0
C11orf70	85016	broad.mit.edu	37	11	101953881	101953881	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:101953881G>A	ENST00000434758.2	+	7	783	c.755G>A	c.(754-756)cGt>cAt	p.R252H		NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	252								p.R214H(2)		breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		CCTATCAGGCGTCACCTTCAT	0.343000													60	174					0	0	0.003610	0	0
UVRAG	7405	broad.mit.edu	37	11	75852254	75852254	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:75852254G>A	ENST00000356136.3	+	15	2138	c.1897G>A	c.(1897-1899)Gaa>Aaa	p.E633K	UVRAG_ENST00000533454.1_Missense_Mutation_p.E261K|UVRAG_ENST00000528420.1_Missense_Mutation_p.E532K|UVRAG_ENST00000538870.1_Missense_Mutation_p.E189K|UVRAG_ENST00000539288.1_Missense_Mutation_p.E261K|UVRAG_ENST00000531818.1_Missense_Mutation_p.E261K|UVRAG_ENST00000532130.1_Missense_Mutation_p.E261K	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	633					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	p.E633K(2)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GGAGCAAGCAGAAGAAATCAT	0.567000													7	105					0	0	0.001984	0	0
MYLK2	85366	broad.mit.edu	37	20	30418929	30418929	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr20:30418929T>C	ENST00000375994.2	+	9	1682	c.1409T>C	c.(1408-1410)gTg>gCg	p.V470A	MYLK2_ENST00000375985.4_Missense_Mutation_p.V470A|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	470	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	p.V470A(2)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGTATGGGGGTGATCACCTAC	0.567000													39	144					0	0	0.002522	0	0
TRBC2	28638	broad.mit.edu	37	7	142498916	142498916	+	RNA	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:142498916G>A	ENST00000466254.1	+	0	192																											GCCCCTCAAGGAGCAGCCCGC	0.642000													38	174					0	0	0.006230	0	0
KNDC1	85442	broad.mit.edu	37	10	135032354	135032354	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr10:135032354C>G	ENST00000304613.3	+	27	4718	c.4697C>G	c.(4696-4698)tCc>tGc	p.S1566C	KNDC1_ENST00000368572.2_Missense_Mutation_p.S1568C			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1566	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			p.S1566C(2)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AACTTGCTGTCCAAATTTTTG	0.463000													94	277					0	0	0.003610	0	0
AKT2	208	broad.mit.edu	37	19	40745964	40745964	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:40745964G>A	ENST00000392038.2	-	7	925	c.627C>T	c.(625-627)caC>caT	p.H209H	AKT2_ENST00000579047.1_Silent_p.H147H|AKT2_ENST00000424901.1_Silent_p.H209H|AKT2_ENST00000311278.6_Silent_p.H209H	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	209	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.H209H(1)		breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TGAGGAACGGGTGCCTGGTGT	0.597000			A		"""ovarian, pancreatic """								33	946					0	0	0.002096	0	0
SMAD4	4089	broad.mit.edu	37	18	48575671	48575671	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr18:48575671C>G	ENST00000342988.3	+	4	969	c.431C>G	c.(430-432)tCa>tGa	p.S144*	SMAD4_ENST00000398417.2_Nonsense_Mutation_p.S144*|SMAD4_ENST00000452201.2_Nonsense_Mutation_p.S144*|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.S144*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	144					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.S144*(5)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TAAGATCTCTCAGGATTAACA	0.294000													12	45					0	0	0.002450	0	0
ATP11C	286410	broad.mit.edu	37	X	138832284	138832284	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chrX:138832284T>A	ENST00000370557.1	-	24	3746	c.2719A>T	c.(2719-2721)Atg>Ttg	p.M907L	ATP11C_ENST00000370543.1_Missense_Mutation_p.M913L|ATP11C_ENST00000361648.2_Missense_Mutation_p.M913L|ATP11C_ENST00000359686.2_Missense_Mutation_p.M913L|ATP11C_ENST00000327569.3_Missense_Mutation_p.M913L|ATP11C_ENST00000460773.1_5'UTR			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	913					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.M913L(4)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ATATTGTACATTGTAAGGTAA	0.383000													24	49					0	0	0.002299	0	0
PEX14	5195	broad.mit.edu	37	1	10555367	10555367	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:10555367C>G	ENST00000356607.4	+	2	153	c.73C>G	c.(73-75)Cga>Gga	p.R25G	PEX14_ENST00000538836.1_5'UTR	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	25					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity	p.R25G(2)		breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		TGTGCTGCCTCGAGAGCCGCT	0.433000											OREG0013090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	54					0	0	0.003080	0	0
EXOC1	55763	broad.mit.edu	37	4	56737273	56737273	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr4:56737273A>G	ENST00000381295.2	+	7	1186	c.838A>G	c.(838-840)Atg>Gtg	p.M280V	EXOC1_ENST00000346134.7_Missense_Mutation_p.M280V|EXOC1_ENST00000349598.6_Missense_Mutation_p.M280V	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	280					exocytosis|protein transport	exocyst	protein binding	p.M280V(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					CTAGAACCACATGGACTTGGC	0.433000													6	107					0	0	0.001168	0	0
LYN	4067	broad.mit.edu	37	8	56866476	56866476	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr8:56866476G>C	ENST00000520220.2	+	8	934	c.660G>C	c.(658-660)gaG>gaC	p.E220D	LYN_ENST00000519728.1_Missense_Mutation_p.E241D	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	241	SH2.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	p.E241D(2)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			ATGCCTGGGAGATCCCCCGGG	0.527000													14	136					0	0	0.002450	0	0
TAAR9	134860	broad.mit.edu	37	6	132859813	132859813	+	RNA	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr6:132859813G>T	ENST00000434551.1	+	0	385					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TATCTCTGTTGATAGATACAT	0.383000													8	91					3.09899e-07	3.48119e-07	0.004482	1	0
KRTAP23-1	337963	broad.mit.edu	37	21	31720897	31720897	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr21:31720897A>C	ENST00000334160.4	-	1	27	c.28T>G	c.(28-30)Ttc>Gtc	p.F10V		NM_181624.1	NP_853655.1	A1A580	KR231_HUMAN	keratin associated protein 23-1	10						intermediate filament		p.F10V(2)		large_intestine(1)|lung(4)|prostate(1)	6						TGGGAGGAGAAGTTTCCACAG	0.537000													7	98					0	0	0.003080	0	0
ALG3	10195	broad.mit.edu	37	3	183960694	183960694	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:183960694C>T	ENST00000455059.1	-	8	1395	c.941G>A	c.(940-942)cGc>cAc	p.R314H	ALG3_ENST00000397676.3_Missense_Mutation_p.R354H|ALG3_ENST00000418734.2_Missense_Mutation_p.R298H|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Missense_Mutation_p.R306H			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	354					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	p.R306H(1)|p.R354H(1)		kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGGAGGGAGCGGCTGAAGCA	0.572000													6	39					0	0	0.003080	0	0
BCAR1	9564	broad.mit.edu	37	16	75263784	75263784	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr16:75263784G>A	ENST00000546196.1	-	7	3803	c.2151C>T	c.(2149-2151)ttC>ttT	p.F717F	BCAR1_ENST00000538440.2_Silent_p.F746F|BCAR1_ENST00000535626.2_Silent_p.F598F|BCAR1_ENST00000393422.2_Silent_p.F764F|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000418647.3_Silent_p.F792F|BCAR1_ENST00000162330.5_Silent_p.F746F|BCAR1_ENST00000542031.2_Silent_p.F744F|BCAR1_ENST00000393420.6_Silent_p.F764F|BCAR1_ENST00000420641.3_Silent_p.F764F			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	746					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	p.F746F(2)|p.F764F(2)|p.F792F(2)		breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCTCCAGGTAGAAGAGCAGCA	0.672000													18	75					0	0	0.008871	0	0
POT1	25913	broad.mit.edu	37	7	124503575	124503575	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:124503575G>A	ENST00000357628.3	-	8	973	c.375C>T	c.(373-375)ttC>ttT	p.F125F	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	125					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.F125F(4)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CCTCAGTAGTGAAGTTAAAAT	0.443000													77	180					0	0	0.003610	0	0
KIF26B	55083	broad.mit.edu	37	1	245530604	245530604	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:245530604C>T	ENST00000407071.2	+	3	1374	c.934C>T	c.(934-936)Cac>Tac	p.H312Y	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	312					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.H312Y(4)|p.H112Y(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CATCCAGGCTCACCAGTACCT	0.592000													6	20					0	0	0.003080	0	0
DNAJC14	85406	broad.mit.edu	37	12	56217256	56217256	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr12:56217256C>G	ENST00000357606.3	-	4	1733	c.1444G>C	c.(1444-1446)Gag>Cag	p.E482Q	DNAJC14_ENST00000317269.3_Missense_Mutation_p.E482Q|DNAJC14_ENST00000317287.5_Missense_Mutation_p.E482Q|RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.G111A			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	482	J.				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	p.E482Q(2)		breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TTGAAGGCCTCCTCAGCCCGG	0.438000													20	111					0	0	0.010504	0	0
KLHL3	26249	broad.mit.edu	37	5	136963999	136963999	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:136963999G>T	ENST00000508657.1	-	13	2196	c.1482C>A	c.(1480-1482)tgC>tgA	p.C494*	KLHL3_ENST00000309755.4_Nonsense_Mutation_p.C526*|KLHL3_ENST00000506491.1_Nonsense_Mutation_p.C444*|KLHL3_ENST00000541417.1_3'UTR|KLHL3_ENST00000506873.1_5'UTR	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	526						cytoplasm|cytoskeleton	actin binding|structural molecule activity	p.C526*(2)|p.C526C(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CGTTGCGCCGGCACATGTTCA	0.537000													61	253					1.08141e-31	1.36492e-31	0.003610	1	0
SLC35B2	347734	broad.mit.edu	37	6	44222521	44222521	+	Silent	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr6:44222521G>C	ENST00000393812.3	-	4	1364	c.1221C>G	c.(1219-1221)ctC>ctG	p.L407L	SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000537814.1_Silent_p.L274L|SLC35B2_ENST00000538577.1_Silent_p.L314L	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	407					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	p.L407L(2)		breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CGTAGACTCTGAGCAGGAGGG	0.602000													21	142					0	0	0.001882	0	0
CACNG4	27092	broad.mit.edu	37	17	65027117	65027117	+	Silent	SNP	G	G	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr17:65027117G>T	ENST00000262138.3	+	4	983	c.981G>T	c.(979-981)gtG>gtT	p.V327V		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	327					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	p.V327V(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CGACCCCTGTGTGAGCCGCCT	0.572000													23	106					3.28513e-13	3.8982e-13	0.003954	1	0
NOP16	51491	broad.mit.edu	37	5	175812222	175812222	+	Splice_Site	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:175812222C>T	ENST00000389158.5	-	4	828	c.393_splice	c.e4+1	p.K131_splice	NOP16_ENST00000509257.1_Silent_p.K131K|NOP16_ENST00000507413.1_Intron|NOP16_ENST00000510123.1_Splice_Site_p.K131_splice			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	131						nucleolus		p.K106K(2)|p.K131K(2)		central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						AGCCGCTCACCTTATAGTCCT	0.562000													25	149					0	0	0.004656	0	0
FLCN	201163	broad.mit.edu	37	17	17122443	17122443	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr17:17122443C>A	ENST00000285071.4	-	9	1406	c.952G>T	c.(952-954)Gaa>Taa	p.E318*	RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	318					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	p.E318*(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TCCCGCCCTTCTGTACTCTCT	0.587000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				76	290					5.98988e-27	7.44867e-27	0.003610	1	0
PPP2R2A	5520	broad.mit.edu	37	8	26223870	26223870	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr8:26223870G>A	ENST00000380737.3	+	9	1341	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.E348K	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha									p.E338K(2)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TTCACTGTATGAAAATGACTG	0.308000													30	151					0	0	0.002836	0	0
GRK6	2870	broad.mit.edu	37	5	176867754	176867754	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:176867754C>T	ENST00000355472.5	+	14	1626	c.1458C>T	c.(1456-1458)gtC>gtT	p.V486V	GRK6_ENST00000393576.3_Silent_p.V452V|PRR7-AS1_ENST00000425316.3_RNA|GRK6_ENST00000528793.1_Silent_p.V486V|GRK6_ENST00000355958.5_Silent_p.V486V	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	486	AGC-kinase C-terminal.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.V486V(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCTACGGTCAAGGGCGTGG	0.582000													31	112					0	0	0.008361	0	0
OBSL1	23363	broad.mit.edu	37	2	220432056	220432056	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:220432056G>C	ENST00000404537.1	-	4	1832	c.1776C>G	c.(1774-1776)atC>atG	p.I592M	OBSL1_ENST00000373873.4_Missense_Mutation_p.I592M|OBSL1_ENST00000373876.1_Missense_Mutation_p.I592M|OBSL1_ENST00000265318.4_Missense_Mutation_p.I592M|OBSL1_ENST00000289656.3_Missense_Mutation_p.I179M|OBSL1_ENST00000603926.1_Missense_Mutation_p.I592M	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	592	Fibronectin type-III.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	p.I592M(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TGACTGTGCAGATGCGGAAGC	0.612000													4	27					0	0	0.009096	0	0
HYI	81888	broad.mit.edu	37	1	43917151	43917151	+	Silent	SNP	G	G	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:43917151G>A	ENST00000372425.4	-	7	885	c.690C>T	c.(688-690)ttC>ttT	p.F230F	SZT2_ENST00000372442.1_3'UTR|HYI_ENST00000486909.1_Silent_p.F230F|HYI_ENST00000372434.1_Silent_p.F255F|HYI_ENST00000372432.1_Silent_p.F230F|HYI_ENST00000583037.1_Silent_p.F157F|HYI_ENST00000372426.1_Silent_p.F182F|SZT2_ENST00000562955.1_3'UTR			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	230							hydroxypyruvate isomerase activity	p.F230F(2)|p.F157F(2)		large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACAGATAGGGGAAATTCAGCT	0.607000													38	128					0	0	0.004878	0	0
NRG3	10718	broad.mit.edu	37	10	83635863	83635863	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr10:83635863C>T	ENST00000404547.1	+	1	767	c.767C>T	c.(766-768)tCt>tTt	p.S256F	NRG3_ENST00000372141.2_Missense_Mutation_p.S256F			P56975	NRG3_HUMAN	neuregulin 3	256	Poly-Ser.|Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.S256F(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		tcttcttcctcttcttcctcc	0.512000													4	12					0	0	0.009096	0	0
N4BP1	9683	broad.mit.edu	37	16	48594762	48594762	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr16:48594762C>T	ENST00000262384.3	-	2	2028	c.1792G>A	c.(1792-1794)Gat>Aat	p.D598N	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	598					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		p.D598N(2)|p.D645N(2)		breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TTTAGAGTATCTCGAAACCTT	0.423000													23	236					0	0	0.002780	0	0
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	G	rs121912660		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr17:7577099C>G	ENST00000420246.2	-	8	971	c.839G>C	c.(838-840)aGa>aCa	p.R280T	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R280T|TP53_ENST00000445888.2_Missense_Mutation_p.R280T|TP53_ENST00000359597.4_Missense_Mutation_p.R280T|TP53_ENST00000455263.2_Missense_Mutation_p.R280T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (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.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		GCGCCGGTCTCTCCCAGGACA	0.542000		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)			18	53					0	0	0.007413	0	0
MUT	4594	broad.mit.edu	37	6	49425625	49425625	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr6:49425625G>C	ENST00000274813.3	-	3	659	c.532C>G	c.(532-534)Cct>Gct	p.P178A		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	178					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	p.P178A(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTTCTAAAGGAATTCCATCA	0.383000													13	101					0	0	0.001855	0	0
DMPK	1760	broad.mit.edu	37	19	46283154	46283154	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr19:46283154C>A	ENST00000600757.1	-	1	851	c.164G>T	c.(163-165)cGg>cTg	p.R55L	DMPK_ENST00000354227.5_Intron|DMPK_ENST00000458663.2_Intron|DMPK_ENST00000291270.4_Intron|AC011530.4_ENST00000593999.1_Intron|DMPK_ENST00000447742.2_Intron|DMPK_ENST00000343373.4_Missense_Mutation_p.R55L			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	55					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.R55L(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GGAAAAGAACCGAGGGTCACC	0.602000													16	61					5.03518e-11	5.91239e-11	0.007413	1	0
FSIP2	401024	broad.mit.edu	37	2	186670938	186670938	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:186670938G>C	ENST00000343098.5	+	17	17172	c.17172G>C	c.(17170-17172)aaG>aaC	p.K5724N	FSIP2_ENST00000424728.1_Missense_Mutation_p.K5635N	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.K333N(4)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGAAGTCCAAGAGAAATCTAG	0.388000													7	78					0	0	0.001984	0	0
EXOG	9941	broad.mit.edu	37	3	38548401	38548401	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:38548401C>T	ENST00000287675.5	+	5	683	c.587C>T	c.(586-588)tCt>tTt	p.S196F	EXOG_ENST00000358249.2_Missense_Mutation_p.S56F|EXOG_ENST00000422077.2_Missense_Mutation_p.S146F	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	196						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding	p.S196F(2)		central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TGGGTGGTATCTGGGCCTTTG	0.353000													17	77					0	0	0.001882	0	0
C1orf87	127795	broad.mit.edu	37	1	60505791	60505791	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:60505791C>G	ENST00000371201.3	-	5	652	c.545G>C	c.(544-546)aGa>aCa	p.R182T	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	182							calcium ion binding	p.R182T(2)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAGTTCTCTTCTGACCAGGGC	0.423000													40	183					0	0	0.005524	0	0
CSMD1	64478	broad.mit.edu	37	8	2876054	2876054	+	Silent	SNP	A	A	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr8:2876054A>G	ENST00000520002.1	-	53	8532	c.7977T>C	c.(7975-7977)caT>caC	p.H2659H	CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602557.1_Silent_p.H2659H|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Silent_p.H2658H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2659	Sushi 17.					integral to membrane		p.H2387H(2)|p.H2658H(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTCTCTGACATGAGACCCCA	0.483000													40	263					0	0	0.007835	0	0
SLC22A8	9376	broad.mit.edu	37	11	62761244	62761244	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:62761244G>C	ENST00000336232.2	-	9	1458	c.1323C>G	c.(1321-1323)atC>atG	p.I441M	SLC22A8_ENST00000545207.1_Missense_Mutation_p.I350M|SLC22A8_ENST00000535878.1_Missense_Mutation_p.I318M|SLC22A8_ENST00000430500.2_Missense_Mutation_p.I441M|SLC22A8_ENST00000311438.8_Missense_Mutation_p.I441M	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	441					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	p.I441M(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GCACCTACCTGATGACTGTGG	0.562000													9	97					0	0	0.000978	0	0
DNAH10	196385	broad.mit.edu	37	12	124323233	124323233	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr12:124323233C>G	ENST00000409039.3	+	28	4804	c.4779C>G	c.(4777-4779)atC>atG	p.I1593M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1593	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I185M(2)|p.I1593M(2)		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)		AGCACATGATCAAGGTCAGCC	0.557000													44	159					0	0	0.009718	0	0
NUMB	8650	broad.mit.edu	37	14	73749182	73749182	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr14:73749182G>C	ENST00000556772.1	-	5	2836	c.549C>G	c.(547-549)atC>atG	p.I183M	NUMB_ENST00000454166.4_Missense_Mutation_p.I229M|NUMB_ENST00000359560.3_Missense_Mutation_p.I316M|NUMB_ENST00000554546.1_Missense_Mutation_p.I316M|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000356296.4_Missense_Mutation_p.I327M|NUMB_ENST00000355058.3_Missense_Mutation_p.I327M|NUMB_ENST00000555394.1_Missense_Mutation_p.I327M|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000555238.1_Missense_Mutation_p.I327M|NUMB_ENST00000560335.1_Missense_Mutation_p.I229M|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000557597.1_Missense_Mutation_p.I316M|NUMB_ENST00000535282.1_Missense_Mutation_p.I316M|NUMB_ENST00000555738.2_Missense_Mutation_p.I218M			P49757	NUMB_HUMAN	numb homolog (Drosophila)	327	PID.				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane		p.I327M(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		ACAGGGAGCTGATGCTCTCTG	0.498000													21	88					0	0	0.010504	0	0
GPR27	2850	broad.mit.edu	37	3	71804103	71804103	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr3:71804103C>T	ENST00000304411.2	+	1	903	c.903C>T	c.(901-903)gtC>gtT	p.V301V		NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	301						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V301V(1)		kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		GGCCCTACGTCGTGGCCAGCT	0.672000													9	47					0	0	0.000978	0	0
ADD3	120	broad.mit.edu	37	10	111878416	111878416	+	Silent	SNP	C	C	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr10:111878416C>T	ENST00000277900.8	+	6	1004	c.639C>T	c.(637-639)ttC>ttT	p.F213F	ADD3_ENST00000356080.4_Silent_p.F213F|ADD3_ENST00000360162.3_Silent_p.F213F	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	213						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	p.F213F(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ATACAGGATTCAGTCCCCATG	0.393000													20	64					0	0	0.010504	0	0
PDGFRB	5159	broad.mit.edu	37	5	149514487	149514487	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr5:149514487C>G	ENST00000261799.4	-	4	926	c.457G>C	c.(457-459)Gac>Cac	p.D153H		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	153	Ig-like C2-type 2.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	p.D153H(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGCTGTGGGTCTGTTACTCGG	0.522000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								42	208					0	0	0.003214	0	0
TRPM7	54822	broad.mit.edu	37	15	50891429	50891429	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr15:50891429C>A	ENST00000313478.7	-	22	3334	c.3053G>T	c.(3052-3054)aGa>aTa	p.R1018I	TRPM7_ENST00000560955.1_Missense_Mutation_p.R1018I	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1018					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	p.R1018I(2)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TATTGCCTTTCTGGGAACACC	0.353000													29	113					1.50538e-07	1.6967e-07	0.006320	1	0
LUZP1	7798	broad.mit.edu	37	1	23419318	23419319	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:23419318_23419319insG	ENST00000302291.4	-	4	2237_2238	c.1436_1437insC	c.(1435-1437)cgcfs	p.R479fs	LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.R479fs|LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.R479fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.R479fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	479						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CCTGAGCAGCCGGGGGGTAGCG	0.569													8	638	---	---	---	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)cccfs	p.P344fs	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515													10	504	---	---	---	---					
KHDRBS1	10657	broad.mit.edu	37	1	32503458	32503459	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:32503458_32503459insG	ENST00000327300.7	+	6	1095_1096	c.928_929insG	c.(928-930)gggfs	p.G310fs	KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Frame_Shift_Ins_p.G271fs	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	310	Arg/Gly-rich.				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGGACCACCTCGGGGGGCTTTG	0.500													8	276	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)ccctatfs	p.Y118fs	FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594													17	237	---	---	---	---					
ROR1	4919	broad.mit.edu	37	1	64516358	64516359	+	Splice_Site	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:64516358_64516359insC	ENST00000371079.1	+	4	827_828	c.451_splice	c.e4-1	p.A151_splice	ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Splice_Site_p.A151_splice	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	151					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						ATTTCTTCAGGCCCCCCTCCCA	0.396													7	816	---	---	---	---					
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:89613321_89613322insC	ENST00000294671.2	-	8	1431_1432	c.1293_1294insG	c.(1291-1296)ggacaafs	p.Q432fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	432						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436													9	221	---	---	---	---					
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)gggfs	p.G170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386													10	289	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)catfs	p.H352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505													29	529	---	---	---	---					
SPAG17	200162	broad.mit.edu	37	1	118584454	118584455	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:118584454_118584455insG	ENST00000336338.5	-	21	3090_3091	c.3025_3026insC	c.(3025-3027)ccafs	p.P1009fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1009						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTCTGGTTGGTGGGGGGACTCT	0.371													7	909	---	---	---	---					
NOTCH2	4853	broad.mit.edu	37	1	120467956	120467957	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:120467956_120467957insA	ENST00000256646.2	-	25	4701_4702	c.4482_4483insT	c.(4480-4485)ttaatgfs	p.LM1494fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1494	Negative regulatory region (NRR).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCTGGCATTCAAAGTTGTCAA	0.510			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				72	894	---	---	---	---					
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1624-1629)gaccccfs	p.DP542fs	ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs|ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	542					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554													15	384	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1254)tccfs	p.S418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAGGTTTGCCCCCCGCCAG	0.500													7	422	---	---	---	---					
OTUD7B	56957	broad.mit.edu	37	1	149916719	149916720	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:149916719_149916720insC	ENST00000369135.3	-	12	1862_1863	c.1568_1569insG	c.(1567-1569)gctfs	p.A523fs		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	523					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TGTGCATCAGGCCCCCCATGTT	0.540													8	313	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cagcfs	p.HS1901fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901							calcium ion binding|structural molecule activity	p.H1901fs*30(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515													7	981	---	---	---	---					
SPRR3	6707	broad.mit.edu	37	1	152975813	152975836	+	In_Frame_Del	DEL	ACACCAAGGTCCCTGAACCAGGCA	ACACCAAGGTCCCTGAACCAGGCA	-	rs1970328	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:152975813_152975836delACACCAAGGTCCCTGAACCAGGCA	ENST00000331860.3	+	3	467_490	c.317_340delACACCAAGGTCCCTGAACCAGGCA	c.(316-342)tgc>t	p.YTKVPEPGS106del	SPRR3_ENST00000542696.1_In_Frame_Del_p.YTKVPEPGS98del|SPRR3_ENST00000295367.4_In_Frame_Del_p.YTKVPEPGS106del	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	106	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	p.Y106C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGCCAGGCTACACCAAGGTCCCTGAACCAGGCAGCATCAAGGT	0.567													8	334	---	---	---	---					
CD1C	911	broad.mit.edu	37	1	158262099	158262100	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:158262099_158262100insC	ENST00000368170.3	+	3	833_834	c.554_555insC	c.(553-555)tccfs	p.S185fs		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	185					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AGAAGCACTTGCCCCCGATTTC	0.450													7	2722	---	---	---	---					
IGSF9	57549	broad.mit.edu	37	1	159900127	159900128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:159900127_159900128insC	ENST00000368094.1	-	15	2112_2113	c.1915_1916insG	c.(1915-1917)actfs	p.T639fs	IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.T623fs|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	639	Fibronectin type-III 2.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGCAGGAGTACCCCCCGGGGT	0.673													7	228	---	---	---	---					
CACNA1E	777	broad.mit.edu	37	1	181549749	181549750	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:181549749_181549750insC	ENST00000526775.1	+	6	953_954	c.788_789insC	c.(787-789)gccfs	p.A263fs	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000357570.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000367573.2_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000360108.3_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000358338.5_Frame_Shift_Ins_p.A214fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	263					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAAGGATTTGACCCCCCTCACC	0.505													7	1015	---	---	---	---					
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:201046125_201046126insC	ENST00000362061.3	-	12	1975_1976	c.1749_1750insG	c.(1747-1752)ggggtafs	p.V584fs	CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	584					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGTCATACCTCCCCCCAAAGA	0.574													8	366	---	---	---	---					
GOLT1A	127845	broad.mit.edu	37	1	204170835	204170836	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:204170835_204170836insC	ENST00000308302.3	-	3	406_407	c.221_222insG	c.(220-222)ggtfs	p.G74fs		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	74					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CGATAACCACACCCCCCAGGAG	0.545													10	568	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396													7	293	---	---	---	---					
DIEXF	27042	broad.mit.edu	37	1	210014266	210014267	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:210014266_210014267insC	ENST00000491415.2	+	8	1408_1409	c.1351_1352insC	c.(1351-1353)cccfs	p.P451fs		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	451					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CCTCATTGCTTCCCCCCTGGGC	0.465													7	236	---	---	---	---					
USH2A	7399	broad.mit.edu	37	1	215821895	215821896	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:215821895_215821896insG	ENST00000366943.2	-	66	14942_14943	c.14556_14557insC	c.(14554-14559)cctgttfs	p.V4853fs	USH2A_ENST00000307340.3_Frame_Shift_Ins_p.V4853fs			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4853	Fibronectin type-III 34.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGGGGAACATGGGGGGACTCC	0.540										HNSCC(13;0.011)			7	577	---	---	---	---					
ROCK2	9475	broad.mit.edu	37	2	11389836	11389837	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:11389836_11389837insA	ENST00000315872.6	-	4	860_861	c.412_413insT	c.(412-414)ggafs	p.G138fs	ROCK2_ENST00000462366.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	138	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TCTTTCTTCCCAAAAAAAGGCA	0.356													8	531	---	---	---	---					
SIX3	6496	broad.mit.edu	37	2	45171841	45171842	+	Frame_Shift_Del	DEL	CA	CA	-	rs338074	by1000genomes	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:45171841_45171842delCA	ENST00000260653.3	+	2	1283_1284	c.941_942delCA	c.(940-942)gfs	p.A314fs		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	314					visual perception	nucleus		p.A314V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACGGAGCGCGCAGACACCGGCA	0.698													6	10	---	---	---	---					
MFSD9	84804	broad.mit.edu	37	2	103334977	103334978	+	Frame_Shift_Ins	INS	-	-	G	rs145424077		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:103334977_103334978insG	ENST00000258436.5	-	6	1369_1370	c.1326_1327insC	c.(1324-1329)ccgcctfs	p.P443fs		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	443					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GCGCCCAGGCTGGGGGGGCCGC	0.554													9	79	---	---	---	---					
SAP130	79595	broad.mit.edu	37	2	128774049	128774050	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:128774049_128774050insG	ENST00000357702.5	-	4	629_630	c.498_499insC	c.(496-501)ccaggtfs	p.G167fs	SAP130_ENST00000259234.6_Frame_Shift_Ins_p.G141fs|SAP130_ENST00000259235.3_Frame_Shift_Ins_p.G167fs	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	167	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCTGGAACCTTGGGGGGAAGTG	0.530													8	85	---	---	---	---					
NR4A2	4929	broad.mit.edu	37	2	157186373	157186374	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:157186373_157186374insG	ENST00000339562.4	-	3	687_688	c.325_326insC	c.(325-327)gtcfs	p.V109fs	NR4A2_ENST00000409572.1_Frame_Shift_Ins_p.V109fs|NR4A2_ENST00000539077.1_Frame_Shift_Ins_p.V120fs|NR4A2_ENST00000409108.2_Frame_Shift_Ins_p.V109fs|NR4A2_ENST00000429376.1_Frame_Shift_Ins_p.V46fs|NR4A2_ENST00000426264.1_Frame_Shift_Ins_p.V46fs	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	109	Gln-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.Q109fs*3(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CTCCTCAGACTGGGGGGGCAGG	0.604													7	47	---	---	---	---					
FIGN	55137	broad.mit.edu	37	2	164467542	164467543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:164467542_164467543insC	ENST00000333129.3	-	3	1113_1114	c.799_800insG	c.(799-801)accfs	p.T267fs	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	267	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	p.A267fs*100(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGGAGGCGGTGCCCCCCCAGGG	0.609													7	134	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179610611	179610612	+	Frame_Shift_Ins	INS	-	-	A	rs148430495	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:179610611_179610612insA	ENST00000360870.5	-	46	16737_16738	c.16515_16516insT	c.(16513-16518)ttaattfs	p.LI5505fs	TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8982	Ig-like 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTGAAATTCAAAAAAACTGT	0.381													7	302	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)gggfs	p.G559fs	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GACTATTTCAAGGGGGGGACTG	0.431													12	765	---	---	---	---					
NYAP2	57624	broad.mit.edu	37	2	226447071	226447072	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:226447071_226447072insC	ENST00000272907.6	+	4	1351_1352	c.938_939insC	c.(937-939)tccfs	p.S313fs	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	313	Pro-rich.																TCAGTGCCATGCCCCCCCAAGG	0.619													10	97	---	---	---	---					
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)cccfs	p.P404fs	INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs|INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535													10	331	---	---	---	---					
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cctfs	p.P202fs	NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AATCACCAGGTGGGGGGGCAGG	0.535													9	264	---	---	---	---					
SRGAP3	9901	broad.mit.edu	37	3	9034599	9034600	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:9034599_9034600insC	ENST00000383836.3	-	20	2975_2976	c.2548_2549insG	c.(2548-2550)gatfs	p.D850fs	SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.D826fs	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	850					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCGGCCCATCACCCCCCCAAAG	0.554			T	RAF1	pilocytic astrocytoma								8	147	---	---	---	---					
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(124-129)ttggggfs	p.LG42fs	KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	42	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465													7	237	---	---	---	---					
VGLL3	389136	broad.mit.edu	37	3	87018182	87018183	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr3:87018182_87018183insC	ENST00000398399.2	-	3	857_858	c.494_495insG	c.(493-495)ggtfs	p.G165fs	VGLL3_ENST00000383698.3_Frame_Shift_Ins_p.G165fs	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGGATGAACTCCCCCCAAACA	0.579													8	294	---	---	---	---					
ABCG2	9429	broad.mit.edu	37	4	89052270	89052271	+	Frame_Shift_Ins	INS	-	-	T	rs150450599	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr4:89052270_89052271insT	ENST00000237612.3	-	5	1018_1019	c.473_474insA	c.(472-474)agafs	p.R158fs	ABCG2_ENST00000515655.1_Frame_Shift_Ins_p.R158fs	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	158	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TAATCCGTTCGTTTTTTTCATG	0.426													8	841	---	---	---	---					
RRH	10692	broad.mit.edu	37	4	110763720	110763721	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr4:110763720_110763721insC	ENST00000317735.4	+	6	850_851	c.816_817insC	c.(814-819)ccccccfs	p.PP272fs		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	272					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		AGAAGATTCCTCCCCCCATGGC	0.416													7	543	---	---	---	---					
ANK2	287	broad.mit.edu	37	4	114280134	114280135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr4:114280134_114280135insG	ENST00000357077.4	+	38	10413_10414	c.10360_10361insG	c.(10360-10362)gggfs	p.G3454fs	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Frame_Shift_Ins_p.G3421fs|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3421					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.T3457fs*8(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTTCCTGCAGGGGGGGCACG	0.455													11	167	---	---	---	---					
MFSD8	256471	broad.mit.edu	37	4	128842758	128842758	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr4:128842758delA	ENST00000296468.3	-	12	1398	c.1271delT	c.(1270-1272)ggfs	p.V424fs	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Frame_Shift_Del_p.V379fs	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	424					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TCCTATTAGCACAGCTGATGT	0.448													19	59	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187558038	187558039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr4:187558038_187558039insG	ENST00000441802.2	-	5	3881_3882	c.3672_3673insC	c.(3670-3675)ccaatcfs	p.I1225fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1225	Cadherin 10.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGTTGATTTGGGGGGACTAC	0.361										HNSCC(5;0.00058)			9	1188	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36608557	36608558	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:36608557_36608558insG	ENST00000265113.4	+	2	508_509	c.32_33insG	c.(31-33)aggfs	p.R11fs	SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.R11fs|SLC1A3_ENST00000506725.1_3'UTR	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	11					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	GAGCCCAAGATGGGGGGCAGGA	0.455													11	170	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(928-933)atggggfs	p.MG310fs	SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	310					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TGGGTGTGATTGGGGGGCAGCT	0.520													9	539	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5895)accfs	p.T1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485													12	325	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C	rs151053868		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)ggttacfs	p.Y2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421													11	360	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:127648336_127648337insG	ENST00000508053.1	-	43	5842_5843	c.4868_4869insC	c.(4867-4869)cgtfs	p.R1623fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs			P35556	FBN2_HUMAN	fibrillin 2	1623	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.P1623P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCTATTGACAGGGGGGCATGT	0.505													9	1460	---	---	---	---					
DIAPH1	1729	broad.mit.edu	37	5	140953308	140953309	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:140953308_140953309insG	ENST00000253811.6	-	16	2248_2249	c.2108_2109insC	c.(2107-2109)cccfs	p.P703fs	DIAPH1_ENST00000518047.1_Frame_Shift_Ins_p.P694fs|DIAPH1_ENST00000520569.1_Frame_Shift_Ins_p.P649fs|DIAPH1_ENST00000389057.5_Frame_Shift_Ins_p.P694fs|DIAPH1_ENST00000398566.3_Frame_Shift_Ins_p.P694fs|DIAPH1_ENST00000398557.4_Frame_Shift_Ins_p.P703fs|DIAPH1_ENST00000398562.2_Frame_Shift_Ins_p.P682fs|DIAPH1_ENST00000389054.3_Frame_Shift_Ins_p.P703fs			O60610	DIAP1_HUMAN	diaphanous-related formin 1	703	FH1.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGAGGAGGTGGGGGGGGAAT	0.639													8	43	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)ggggatfs	p.D763fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCTGGATCCTCCCCCCAGCGA	0.579													7	333	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141051692	141051693	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:141051692_141051693insC	ENST00000239440.4	-	10	1626_1627	c.1561_1562insG	c.(1561-1563)ggtfs	p.G521fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.G443fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.G183fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	521	Arf-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GCAGATGACCACCCCCAAATTG	0.609													7	1081	---	---	---	---					
PPP2R2B	5521	broad.mit.edu	37	5	145969651	145969652	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr5:145969651_145969652insC	ENST00000394413.3	-	9	1760_1761	c.1190_1191insG	c.(1189-1191)gaafs	p.E397fs	PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.E455fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.E403fs|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.E400fs|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.E463fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.E397fs			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	397					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTCCGCTTGCCCCCCACACA	0.500													10	601	---	---	---	---					
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Frame_Shift_Ins	INS	-	-	C	rs55808116		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:10557409_10557410insC	ENST00000316170.3	+	1	1170_1171	c.753_754insC	c.(751-756)ccccccfs	p.PP251fs	GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000379597.3_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	253						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGAAACCGCCTCCCCCCCATAA	0.485													17	289	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599													14	305	---	---	---	---					
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:29627216_29627217insC	ENST00000376894.4	+	2	327_328	c.209_210insC	c.(208-210)cccfs	p.P70fs	MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000490427.1_Intron|MOG_ENST00000483013.1_Intron			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	70	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		p.F73fs*29(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGGTGGTACCGCCCCCCCTTCT	0.569													10	206	---	---	---	---					
DDR1	780	broad.mit.edu	37	6	30867830	30867831	+	Frame_Shift_Ins	INS	-	-	G	rs146246499	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:30867830_30867831insG	ENST00000361741.4	+	12	1492_1493	c.1297_1298insG	c.(1297-1299)gggfs	p.G433fs	DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000454612.2_3'UTR|DDR1_ENST00000376570.4_3'UTR|DDR1_ENST00000376567.2_3'UTR|DDR1_ENST00000376575.3_3'UTR|DDR1_ENST00000376568.3_3'UTR|DDR1_ENST00000452441.1_3'UTR|DDR1_ENST00000376569.3_3'UTR|DDR1_ENST00000324771.8_3'UTR			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	0					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TGTACATTTTTGGGGGGAGAGA	0.441													7	244	---	---	---	---					
C6orf25	80739	broad.mit.edu	37	6	31692528	31692529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:31692528_31692529insC	ENST00000375809.3	+	5	558_559	c.547_548insC	c.(547-549)cccfs	p.P183fs	C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TTCAGCTCTGTCCCCCCCACAT	0.579													10	241	---	---	---	---					
VPS52	6293	broad.mit.edu	37	6	33219719	33219720	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:33219719_33219720insG	ENST00000445902.2	-	18	2041_2042	c.1823_1824insC	c.(1822-1824)cttfs	p.L608fs	VPS52_ENST00000436044.2_Frame_Shift_Ins_p.L483fs|VPS52_ENST00000482399.1_3'UTR|HCG25_ENST00000450514.1_RNA|VPS52_ENST00000478934.1_5'UTR|HCG25_ENST00000427196.1_RNA	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	608					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AACCCCCAAAAGGGGGAGACAG	0.480													8	133	---	---	---	---					
UHRF1BP1	54887	broad.mit.edu	37	6	34791081	34791082	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:34791081_34791082insC	ENST00000192788.5	+	4	465_466	c.294_295insC	c.(292-297)cgccccfs	p.RP98fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.RP98fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	98										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGATCCTCGGCCCCCCAATGG	0.446													10	823	---	---	---	---					
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:87725846_87725847insC	ENST00000305344.4	+	2	1497_1498	c.794_795insC	c.(793-795)accfs	p.T265fs	HTR1E_ENST00000369584.1_Frame_Shift_Ins_p.T265fs	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	265					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCCATCAGGATCCCCCCCTTCG	0.510													8	322	---	---	---	---					
REV3L	5980	broad.mit.edu	37	6	111701353	111701354	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:111701353_111701354insC	ENST00000435970.1	-	13	1867_1868	c.1051_1052insG	c.(1051-1053)aagfs	p.K351fs	REV3L_ENST00000358835.3_Frame_Shift_Ins_p.K429fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.K429fs|REV3L_ENST00000368805.1_Frame_Shift_Ins_p.K429fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	429					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CCTATTTCTTTCCCCCCGATAT	0.381								DNA polymerases (catalytic subunits)					8	248	---	---	---	---					
ZUFSP	221302	broad.mit.edu	37	6	116967057	116967058	+	Frame_Shift_Ins	INS	-	-	T	rs141299898	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:116967057_116967058insT	ENST00000368576.3	-	9	1751_1752	c.1508_1509insA	c.(1507-1509)acgfs	p.T503fs		NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	503						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		ATAATGTTCGGTTTTTTTTCTC	0.337													9	517	---	---	---	---					
PLEKHG1	57480	broad.mit.edu	37	6	151151947	151151951	+	Frame_Shift_Del	DEL	CCTCC	CCTCC	-			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:151151947_151151951delCCTCC	ENST00000367328.1	+	16	2012_2016	c.1700_1704delCCTCC	c.(1699-1704)tfs	p.SS567fs	PLEKHG1_ENST00000358517.2_Frame_Shift_Del_p.SS567fs	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	567					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CCGTCATTTTCCTCCTCAGATCTGA	0.517													20	161	---	---	---	---					
EPDR1	54749	broad.mit.edu	37	7	37988587	37988588	+	Frame_Shift_Ins	INS	-	-	T	rs145911941	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:37988587_37988588insT	ENST00000199448.4	+	2	794_795	c.415_416insT	c.(415-417)cggfs	p.R139fs	EPDR1_ENST00000476620.1_Frame_Shift_Ins_p.R37fs|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000425345.1_Frame_Shift_Ins_p.R78fs|EPDR1_ENST00000559325.1_Frame_Shift_Ins_p.R259fs	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	139					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CCAGTACTCCATCGGGGGGCCT	0.510													8	315	---	---	---	---					
C7orf10	79783	broad.mit.edu	37	7	40899961	40899962	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:40899961_40899962insC	ENST00000309930.5	+	15	1323_1324	c.1299_1300insC	c.(1297-1302)ccccccfs	p.PP433fs	C7orf10_ENST00000401647.2_Frame_Shift_Ins_p.PP359fs|C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000335693.4_Frame_Shift_Ins_p.PP407fs	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	407							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						AGGCCAGGCCGCCCCCGCTGCT	0.569													13	824	---	---	---	---					
AKAP9	10142	broad.mit.edu	37	7	91732038	91732039	+	Frame_Shift_Ins	INS	-	-	G	rs143306820		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:91732038_91732039insG	ENST00000359028.2	+	46	11465_11466	c.11240_11241insG	c.(11239-11241)aggfs	p.R3747fs	AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.R3743fs|AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R3693fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3747					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGCCCGGATGGGGGGGCAGC	0.535			T	BRAF	papillary thyroid								18	486	---	---	---	---					
TRRAP	8295	broad.mit.edu	37	7	98592294	98592295	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:98592294_98592295insC	ENST00000359863.4	+	66	10299_10300	c.10090_10091insC	c.(10090-10092)cccfs	p.P3364fs	TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.P3335fs|TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.P3353fs	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3364					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCTAAAATCACCCCCCACACT	0.540													9	718	---	---	---	---					
SPDYE3	441272	broad.mit.edu	37	7	99912173	99912174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:99912173_99912174insC	ENST00000332397.6	+	6	1185_1186	c.1001_1002insC	c.(1000-1002)accfs	p.T334fs	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	334										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTAGATCCCAGCCCCCCGCGTA	0.569													10	450	---	---	---	---					
EXOC4	60412	broad.mit.edu	37	7	133682284	133682285	+	Frame_Shift_Ins	INS	-	-	C	rs34608222	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:133682284_133682285insC	ENST00000253861.4	+	15	2275_2276	c.2246_2247insC	c.(2245-2247)cccfs	p.P749fs	EXOC4_ENST00000545148.1_Frame_Shift_Ins_p.P359fs|EXOC4_ENST00000541309.1_Frame_Shift_Ins_p.P37fs|EXOC4_ENST00000539845.1_Frame_Shift_Ins_p.P648fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	749					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AACACGGATCTCCCCCCAGTGT	0.460													8	523	---	---	---	---					
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr7:142612493_142612494insC	ENST00000265310.1	-	10	1617_1618	c.1269_1270insG	c.(1267-1272)ggcattfs	p.I424fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	424					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACATGGAATGGCCCCCCAAGAA	0.505													7	787	---	---	---	---					
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)cccfs	p.P1552fs	ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421													15	213	---	---	---	---					
KCNB2	9312	broad.mit.edu	37	8	73480396	73480397	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:73480396_73480397insA	ENST00000523207.1	+	2	1015_1016	c.427_428insA	c.(427-429)aaafs	p.K143fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	143					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.Q143K(1)|p.E146fs*3(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CAGATATCATCAAAAAAAAGAA	0.446													14	700	---	---	---	---					
MIR1208	100302281	broad.mit.edu	37	8	129162432	129162433	+	RNA	INS	-	-	G	rs2648841	by1000genomes	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:129162432_129162433insG	ENST00000408334.1	+	0	71_72					NR_031613.1																						ACCACTGTGGTGGGGGGGAGTG	0.564													8	165	---	---	---	---					
ADAMTSL1	92949	broad.mit.edu	37	9	18829842	18829843	+	Splice_Site	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr9:18829842_18829843insC	ENST00000380548.4	+	23	4455_4456	c.4114_splice	c.e23-1	p.DP1372_splice	ADAMTSL1_ENST00000380545.5_Splice_Site_p.DP73_splice	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1372						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTCTCACAGATCCCCCCCAAGT	0.564													12	205	---	---	---	---					
ANKRD19P	138649	broad.mit.edu	37	9	95649123	95649124	+	RNA	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr9:95649123_95649124insC	ENST00000473204.1	+	0	2259																											GCAATCTAGCACCCCCCAAAAG	0.540													8	315	---	---	---	---					
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr9:107593322_107593323insC	ENST00000374736.3	-	14	2169_2170	c.1775_1776insG	c.(1774-1776)gttfs	p.V592fs		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	592					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTAGGCGAAGCCCCCCCAGAC	0.540													12	235	---	---	---	---					
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr9:118982329_118982330insC	ENST00000328252.3	+	5	2401_2402	c.2032_2033insC	c.(2032-2034)cccfs	p.P678fs	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	678					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTTGCCCTCGCCCCCCAAGTT	0.574													9	498	---	---	---	---					
NUP214	8021	broad.mit.edu	37	9	134073007	134073008	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr9:134073007_134073008insC	ENST00000359428.5	+	29	4270_4271	c.4126_4127insC	c.(4126-4128)cccfs	p.P1376fs	NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000451030.1_Frame_Shift_Ins_p.P1377fs|NUP214_ENST00000411637.2_Frame_Shift_Ins_p.P1366fs|NUP214_ENST00000483497.2_Frame_Shift_Ins_p.P202fs			P35658	NU214_HUMAN	nucleoporin 214kDa	1376	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TAATTTTACTGCCCCCCCGGTG	0.545			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								8	118	---	---	---	---					
ZEB1	6935	broad.mit.edu	37	10	31809832	31809833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr10:31809832_31809833insG	ENST00000446923.2	+	7	1912_1913	c.1521_1522insG	c.(1519-1524)gaggggfs	p.EG507fs	ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs|ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs|ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	523					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGCTTTGAAGGGGGGGTGAA	0.371													9	197	---	---	---	---					
BMS1	9790	broad.mit.edu	37	10	43294047	43294048	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr10:43294047_43294048insC	ENST00000374518.4	+	12	2284_2285	c.2221_2222insC	c.(2221-2223)cccfs	p.P741fs		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	741					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCTTGTGGAGGCCCCCCATGAC	0.431													8	426	---	---	---	---					
MYOF	26509	broad.mit.edu	37	10	95169434	95169435	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr10:95169434_95169435insC	ENST00000371501.4	-	6	617_618	c.495_496insG	c.(493-498)ggccaafs	p.Q166fs	MYOF_ENST00000371502.4_Frame_Shift_Ins_p.Q166fs|MYOF_ENST00000358334.5_Frame_Shift_Ins_p.Q166fs|MYOF_ENST00000371489.1_Frame_Shift_Ins_p.Q166fs|MYOF_ENST00000359263.4_Frame_Shift_Ins_p.Q166fs			Q9NZM1	MYOF_HUMAN	myoferlin	166					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GGCCCCTTGGGCCCAGGGCCCC	0.535													19	851	---	---	---	---					
OR51E1	143503	broad.mit.edu	37	11	4674216	4674217	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:4674216_4674217insG	ENST00000396952.5	+	2	1110_1111	c.460_461insG	c.(460-462)gggfs	p.G154fs	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A155fs*3(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTGTGGTGCGGGGGGCTGCA	0.559													20	865	---	---	---	---					
OR52B6	340980	broad.mit.edu	37	11	5602545	5602546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:5602545_5602546insC	ENST00000345043.2	+	1	439_440	c.439_440insC	c.(439-441)cccfs	p.P147fs	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCATCTGCTCCCCCCTGCGA	0.510													9	787	---	---	---	---					
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:48328524_48328525insC	ENST00000319988.1	+	1	750_751	c.750_751insC	c.(748-753)atccccfs	p.IP250fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGTTCTCATGCCCCCCATGTT	0.480													9	709	---	---	---	---					
PATL1	219988	broad.mit.edu	37	11	59425145	59425146	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:59425145_59425146insG	ENST00000300146.9	-	5	562_563	c.478_479insC	c.(478-480)gggfs	p.G160fs		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	160	Pro-rich.|Region N; interaction with decapping machinery.			Q -> H (in Ref. 2; BAG54601).	cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TTCTGGACCCTGGGGGGGCCTC	0.455													7	94	---	---	---	---					
SYTL2	54843	broad.mit.edu	37	11	85435355	85435356	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:85435355_85435356insG	ENST00000359152.5	-	1	3715_3716	c.3716_3717insC	c.(3715-3717)cgafs	p.R1239fs	SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000524452.1_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	400					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CCCTGTCCTCTGGGGGGGTTAC	0.480													7	145	---	---	---	---					
RDX	5962	broad.mit.edu	37	11	110104136	110104137	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:110104136_110104137insG	ENST00000343115.4	-	13	1731_1732	c.1412_1413insC	c.(1411-1413)cccfs	p.P471fs	RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	471	Glu-rich.|Poly-Pro.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTGGAGGTGGAGGGGGGGCAGA	0.431													13	545	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:113076860_113076861insG	ENST00000316851.7	+	4	556_557	c.556_557insG	c.(556-558)gggfs	p.G186fs	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495													16	1326	---	---	---	---					
ADAMTS8	11095	broad.mit.edu	37	11	130275723	130275724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:130275723_130275724insG	ENST00000257359.6	-	9	3105_3106	c.2399_2400insC	c.(2398-2400)caafs	p.Q800fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	800	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ATTTGACTTTTGGGGGGAAGAC	0.579													7	1137	---	---	---	---					
IGSF9B	22997	broad.mit.edu	37	11	133807826	133807827	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:133807826_133807827insG	ENST00000321016.8	-	4	669_670	c.439_440insC	c.(439-441)gtafs	p.V147fs	IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.V147fs			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	147	Ig-like 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCGATGTACTGGGGGGGTGTT	0.574													9	74	---	---	---	---					
C1S	716	broad.mit.edu	37	12	7171652	7171653	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:7171652_7171653insC	ENST00000406697.1	+	8	1101_1102	c.473_474insC	c.(472-474)tccfs	p.S158fs	C1S_ENST00000402681.3_5'UTR|C1S_ENST00000328916.3_Frame_Shift_Ins_p.S158fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.S158fs			P09871	C1S_HUMAN	complement component 1, s subcomponent	158	EGF-like; calcium-binding.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTCTGCTCCTGCCCCCCGGAAT	0.455													7	354	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:13142224_13142225insC	ENST00000536942.1	-	2	353_354	c.203_204insG	c.(202-204)gacfs	p.D68fs	HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs			Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554													16	743	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:14019043_14019044insG	ENST00000279593.3	-	2	308_309	c.99_100insC	c.(97-102)ccgcatfs	p.H34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCCAATGCTGGGGGGGCTCT	0.589													7	167	---	---	---	---					
PDE1B	5153	broad.mit.edu	37	12	54971059	54971060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:54971059_54971060insC	ENST00000243052.3	+	15	1994_1995	c.1558_1559insC	c.(1558-1560)cccfs	p.P520fs	PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.P479fs|PDE1B_ENST00000394277.3_3'UTR|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.P500fs	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	520					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TGAAGAAGAGGCCCCCCCATCC	0.559													7	253	---	---	---	---					
NACA	4666	broad.mit.edu	37	12	57115173	57115174	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:57115173_57115174insG	ENST00000454682.1	-	3	421_422	c.140_141insC	c.(139-141)cccfs	p.P47fs	NACA_ENST00000550952.1_Frame_Shift_Ins_p.P47fs|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GAGAGCAAGGAGGGGGGAGGGT	0.554			T	BCL6	NHL								8	143	---	---	---	---					
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:69233089_69233090insC	ENST00000462284.1	+	11	1256_1257	c.954_955insC	c.(952-957)aaccccfs	p.NP318fs	MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000517852.1_Intron	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	312	Necessary for interaction with USP2.|Region II.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""								8	211	---	---	---	---					
BEST3	144453	broad.mit.edu	37	12	70049361	70049362	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:70049361_70049362insG	ENST00000330891.5	-	10	1558_1559	c.1332_1333insC	c.(1330-1335)ccgggcfs	p.PG444fs	BEST3_ENST00000553096.1_Frame_Shift_Ins_p.PG338fs|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs|BEST3_ENST00000331471.4_Intron	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	444						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTGAGGCCCTGGGGGGGTTTC	0.594													8	251	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)cgtfs	p.R1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371													16	286	---	---	---	---					
USP30	84749	broad.mit.edu	37	12	109495864	109495865	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:109495864_109495865insC	ENST00000257548.5	+	3	420_421	c.327_328insC	c.(325-330)gaccccfs	p.DP109fs	USP30_ENST00000392784.2_Frame_Shift_Ins_p.DP78fs	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	109					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ATCAGAAGGAGCCCCCCTCACA	0.485													7	913	---	---	---	---					
HECTD4	283450	broad.mit.edu	37	12	112600859	112600860	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:112600859_112600860insG	ENST00000550722.1	-	75	13063_13064	c.12668_12669insC	c.(12667-12669)cgafs	p.R4223fs	HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.R3947fs|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.R4197fs	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CTGTGCCATCTGGGGGGGCGAT	0.629													13	174	---	---	---	---					
SLC8B1	80024	broad.mit.edu	37	12	113758305	113758306	+	Splice_Site	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:113758305_113758306insG	ENST00000552014.1	-	8	1042		c.e8-2		SLC24A6_ENST00000546737.1_Intron|SLC24A6_ENST00000202831.3_Splice_Site|SLC24A6_ENST00000553238.1_Intron			Q6J4K2	NCKX6_HUMAN							response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CGCCAGCGCCTGGGGGGAGGAG	0.644													11	451	---	---	---	---					
ATP12A	479	broad.mit.edu	37	13	25262563	25262564	+	Frame_Shift_Ins	INS	-	-	G	rs35191129		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr13:25262563_25262564insG	ENST00000218548.6	+	4	668_669	c.335_336insG	c.(334-336)gggfs	p.G112fs	ATP12A_ENST00000381946.3_Frame_Shift_Ins_p.G112fs	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	112					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.V112V(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AAGCAGATGGTGGGGGGGTTCT	0.584													22	525	---	---	---	---					
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggagafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.470													14	228	---	---	---	---					
LMO7	4008	broad.mit.edu	37	13	76375005	76375006	+	Frame_Shift_Ins	INS	-	-	G	rs74596180	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr13:76375005_76375006insG	ENST00000357063.3	+	8	2064_2065	c.804_805insG	c.(802-807)agggggfs	p.RG268fs	LMO7_ENST00000341547.4_Frame_Shift_Ins_p.RG268fs|LMO7_ENST00000465261.2_5'UTR|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000377534.3_Frame_Shift_Ins_p.RG268fs|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000526202.1_Frame_Shift_Ins_p.RG177fs			Q8WWI1	LMO7_HUMAN	LIM domain 7	268						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TCACGTTGAGAGGGGGGCGTGA	0.450													8	612	---	---	---	---					
NID2	22795	broad.mit.edu	37	14	52481918	52481919	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr14:52481918_52481919insG	ENST00000216286.5	-	15	3102_3103	c.3103_3104insC	c.(3103-3105)ggafs	p.G1035fs	NID2_ENST00000541773.1_Frame_Shift_Ins_p.G934fs	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1035	Thyroglobulin type-1 2.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTGGTCATCCCGGGGGGTGCCA	0.624													7	135	---	---	---	---					
SIPA1L1	26037	broad.mit.edu	37	14	72165808	72165809	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr14:72165808_72165809insG	ENST00000555818.1	+	11	3833_3834	c.3485_3486insG	c.(3484-3486)gggfs	p.G1162fs	SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.G1162fs|SIPA1L1_ENST00000537413.1_Frame_Shift_Ins_p.G637fs|SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.G1162fs	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1162					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACTGGTTCTGTGGGGGGCACTT	0.495													9	339	---	---	---	---					
GALC	2581	broad.mit.edu	37	14	88406275	88406276	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr14:88406275_88406276insT	ENST00000261304.2	-	16	1990_1991	c.1884_1885insA	c.(1882-1887)aaggtafs	p.V629fs	GALC_ENST00000393569.2_Frame_Shift_Ins_p.V603fs|GALC_ENST00000544807.2_Frame_Shift_Ins_p.V573fs|GALC_ENST00000393568.4_Frame_Shift_Ins_p.V606fs	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	629					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGTGTATACCATTTTTTTGCTG	0.307													8	642	---	---	---	---					
IGHV4-39	28394	broad.mit.edu	37	14	106877817	106877819	+	RNA	DEL	ACT	ACT	-	rs113800876		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr14:106877817_106877819delACT	ENST00000390619.2	-	0	224_226																											CCCAGTAGTAACTACTACTGCTG	0.596													17	38	---	---	---	---					
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)gggfs	p.G150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.500													25	1042	---	---	---	---					
SNX29	92017	broad.mit.edu	37	16	12162916	12162917	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:12162916_12162917insC	ENST00000566228.1	+	10	1315_1316	c.1246_1247insC	c.(1246-1248)cccfs	p.P416fs	SNX29_ENST00000323433.4_Frame_Shift_Ins_p.P31fs|SNX29_ENST00000306030.3_Frame_Shift_Ins_p.P31fs	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	31					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CTGCACAGATGCCCCCCTCGGA	0.495													9	616	---	---	---	---					
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3300)tccfs	p.S1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475													16	706	---	---	---	---					
ACSM5	54988	broad.mit.edu	37	16	20429391	20429392	+	Frame_Shift_Ins	INS	-	-	C	rs149315908	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:20429391_20429392insC	ENST00000331849.4	+	3	362_363	c.215_216insC	c.(214-216)cccfs	p.P72fs	ACSM5_ENST00000575584.1_Frame_Shift_Ins_p.P72fs	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	72					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GCTGGACACCGCCCCCCAAATC	0.455													11	234	---	---	---	---					
ACSM5	54988	broad.mit.edu	37	16	20429493	20429494	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:20429493_20429494insG	ENST00000331849.4	+	3	464_465	c.317_318insG	c.(316-318)cggfs	p.R106fs	ACSM5_ENST00000575584.1_Frame_Shift_Ins_p.R106fs	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	106					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.L106L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GCCAATGTGCTGGGGGGTGCAT	0.619													7	248	---	---	---	---					
POLR3E	55718	broad.mit.edu	37	16	22339833	22339834	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:22339833_22339834insC	ENST00000299853.5	+	19	2036_2037	c.1869_1870insC	c.(1867-1872)ttccccfs	p.FP623fs	POLR3E_ENST00000359210.4_Frame_Shift_Ins_p.FP623fs|POLR3E_ENST00000418581.2_Frame_Shift_Ins_p.FP587fs|POLR3E_ENST00000564209.1_Frame_Shift_Ins_p.FP623fs	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	623					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		TTGGTCAGTTTCCCCCCCAGAC	0.574													7	154	---	---	---	---					
C16orf87	388272	broad.mit.edu	37	16	46843530	46843531	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr16:46843530_46843531insT	ENST00000285697.4	-	3	591_592	c.330_331insA	c.(328-333)aaatgafs	p.*111fs	C16orf87_ENST00000564250.1_5'UTR|C16orf87_ENST00000394806.2_Intron	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	111										large_intestine(4)|urinary_tract(1)	5						TCTTCCTCATGTTTTTTGGCAG	0.351													7	554	---	---	---	---					
RPA1	6117	broad.mit.edu	37	17	1782982	1782983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:1782982_1782983insG	ENST00000254719.5	+	11	1191_1192	c.1081_1082insG	c.(1081-1083)gggfs	p.G361fs		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	361					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGCTACACTGTGGGGGGAAGAT	0.530								Nucleotide excision repair (NER)					8	691	---	---	---	---					
RAB11FIP4	84440	broad.mit.edu	37	17	29758897	29758898	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:29758897_29758898insG	ENST00000325874.8	+	2	455_456	c.226_227insG	c.(226-228)gggfs	p.G76fs		NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	76	EF-hand.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	p.?(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GGACTTTTGCCGGGGGGTGTTC	0.579													9	182	---	---	---	---					
HNF1B	6928	broad.mit.edu	37	17	36059173	36059174	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:36059173_36059174insG	ENST00000225893.4	-	8	1922_1923	c.1561_1562insC	c.(1561-1563)gtafs	p.V521fs	HNF1B_ENST00000561193.1_Frame_Shift_Ins_p.V495fs|HNF1B_ENST00000427275.2_Intron|HNF1B_ENST00000560016.1_Intron	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	521					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTGGGAATACTGGGGGGGTTCC	0.515													11	200	---	---	---	---					
CDK12	51755	broad.mit.edu	37	17	37687471	37687472	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:37687471_37687472insG	ENST00000447079.4	+	14	4408_4409	c.4375_4376insG	c.(4375-4377)gggfs	p.G1459fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.G1450fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1459					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGGCCTTCACTGGGGGGGCCCA	0.559			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			9	137	---	---	---	---					
KCNH4	23415	broad.mit.edu	37	17	40328258	40328259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:40328258_40328259insC	ENST00000264661.3	-	5	974_975	c.642_643insG	c.(640-645)ggctcgfs	p.S215fs	KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	215					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGCAGCGAGACCCCCCCACGG	0.604													10	232	---	---	---	---					
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:50008356_50008357insC	ENST00000451037.2	-	3	1212_1213	c.272_273insG	c.(271-273)gagfs	p.E91fs	CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TTACCTTCCTGCCCCCCGTGTT	0.490													17	942	---	---	---	---					
MARCH10	162333	broad.mit.edu	37	17	60814265	60814266	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:60814265_60814266insC	ENST00000544856.2	-	7	1338_1339	c.960_961insG	c.(958-963)ggcatcfs	p.I321fs	MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	322							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGGGTCGATGTCCCCCCAAATC	0.460													9	993	---	---	---	---					
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)aagfs	p.K1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376													16	1233	---	---	---	---					
MYOM1	8736	broad.mit.edu	37	18	3142039	3142040	+	Frame_Shift_Ins	INS	-	-	G	rs138431527	by1000genomes	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr18:3142039_3142040insG	ENST00000356443.4	-	14	2255_2256	c.1922_1923insC	c.(1921-1923)cacfs	p.H641fs	MYOM1_ENST00000261606.7_Frame_Shift_Ins_p.H641fs|MYOM1_ENST00000400569.3_Frame_Shift_Ins_p.H641fs	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	641	Fibronectin type-III 2.					striated muscle myosin thick filament	structural constituent of muscle	p.P641Q(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGAGGTCTGTCGGGGGGCCAGG	0.545													9	277	---	---	---	---					
ZNF532	55205	broad.mit.edu	37	18	56585962	56585963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr18:56585962_56585963insC	ENST00000336078.4	+	4	1219_1220	c.443_444insC	c.(442-444)gccfs	p.A148fs	ZNF532_ENST00000591083.1_Frame_Shift_Ins_p.A148fs|ZNF532_ENST00000589288.1_Frame_Shift_Ins_p.A148fs|ZNF532_ENST00000591808.1_Frame_Shift_Ins_p.A148fs|ZNF532_ENST00000591230.1_Frame_Shift_Ins_p.A148fs	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GAGGTGGATGACCCCCCTGACA	0.554													9	964	---	---	---	---					
C19orf12	83636	broad.mit.edu	37	19	30193878	30193879	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:30193878_30193879insC	ENST00000323670.9	-	3	305_306	c.166_167insG	c.(166-168)tgtfs	p.C56fs	C19orf12_ENST00000392276.1_5'UTR|C19orf12_ENST00000592153.1_Frame_Shift_Ins_p.C56fs|C19orf12_ENST00000392278.2_Frame_Shift_Ins_p.C67fs|C19orf12_ENST00000392275.1_5'UTR	NM_001256047.1|NM_031448.4	NP_001242976.1|NP_113636.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	56						integral to membrane						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			CCCCCCGACAGCCCCCCCTAGA	0.525													7	170	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769061	31769062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:31769061_31769062insC	ENST00000240587.4	-	2	1964_1965	c.1637_1638insG	c.(1636-1638)gtafs	p.V546fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	546					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCTGGGATAGCCCCCCCAGCT	0.559													14	419	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:31769141_31769142insC	ENST00000240587.4	-	2	1884_1885	c.1557_1558insG	c.(1555-1560)ggttgafs	p.*520fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	520					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGATATCAAGCCCCCCCTTGG	0.500													10	534	---	---	---	---					
LGALS17A	400696	broad.mit.edu	37	19	40172016	40172017	+	RNA	INS	-	-	G	rs28457128	by1000genomes	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:40172016_40172017insG	ENST00000412609.1	+	0	61																											GAATCTGTTACGGGGGGGAGGC	0.584													7	134	---	---	---	---					
FCGBP	8857	broad.mit.edu	37	19	40433821	40433822	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:40433821_40433822insG	ENST00000221347.6	-	2	454_455	c.447_448insC	c.(445-450)ccgcacfs	p.H150fs		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	150	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCTGAGGTGCCGGGGGGTGTGA	0.604													8	251	---	---	---	---					
HIPK4	147746	broad.mit.edu	37	19	40886757	40886758	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:40886757_40886758insG	ENST00000291823.2	-	3	1424_1425	c.1140_1141insC	c.(1138-1143)cccgccfs	p.A381fs		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	381			T -> M (in dbSNP:rs55760165).			cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			ACGACGGGCGTGGGGGGCTTCC	0.658													8	1057	---	---	---	---					
AXL	558	broad.mit.edu	37	19	41743932	41743933	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:41743932_41743933insC	ENST00000301178.4	+	7	1057_1058	c.867_868insC	c.(865-870)gtccccfs	p.VP289fs	AXL_ENST00000593513.1_Frame_Shift_Ins_p.VP21fs|AXL_ENST00000359092.3_Frame_Shift_Ins_p.VP289fs	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	289	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AAGCATCCGTGCCCCCCCATCA	0.649													13	184	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr19:43439519_43439520insC	ENST00000446844.3	-	0	520				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515													8	722	---	---	---	---					
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr20:333922_333923insC	ENST00000382291.3	+	4	498_499	c.258_259insC	c.(256-261)gtccccfs	p.VP86fs	NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs|NRSN2_ENST00000492242.1_3'UTR	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	86						integral to membrane|plasma membrane|transport vesicle				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GCTATGCAGTGCCCCCCAAGCT	0.644													7	107	---	---	---	---					
RP13-329D4.3	0	broad.mit.edu	37	20	26113594	26113596	+	RNA	DEL	GTG	GTG	-			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr20:26113594_26113596delGTG	ENST00000416563.1	-	0	197_199																											TTGCAAAGATGTGGTGATGATCC	0.355													4	7	---	---	---	---					
NECAB3	63941	broad.mit.edu	37	20	32247349	32247350	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr20:32247349_32247350insG	ENST00000246190.6	-	8	887_888	c.832_833insC	c.(832-834)gctfs	p.A278fs	NECAB3_ENST00000606525.1_5'UTR|NECAB3_ENST00000375238.4_Frame_Shift_Ins_p.A244fs	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	278					antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding			large_intestine(3)|lung(5)|skin(2)	10						GGGTTCCAGCCGGGGGGCCTGT	0.698													3	3	---	---	---	---					
AAR2	25980	broad.mit.edu	37	20	34828224	34828229	+	In_Frame_Del	DEL	TGGAGA	TGGAGA	-	rs138100023		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr20:34828224_34828229delTGGAGA	ENST00000373932.3	+	2	780_785	c.434_439delTGGAGA	c.(433-441)gag>g	p.VEK145del	AAR2_ENST00000397286.3_In_Frame_Del_p.VEK145del|AAR2_ENST00000320849.4_In_Frame_Del_p.VEK145del	NM_015511.3	NP_056326.2			AAR2 splicing factor homolog (S. cerevisiae)																		GAAGCCACAGTGGAGAAGCTACAGCC	0.568													31	298	---	---	---	---					
RPN2	6185	broad.mit.edu	37	20	35860725	35860726	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr20:35860725_35860726insC	ENST00000237530.6	+	14	1919_1920	c.1608_1609insC	c.(1606-1611)agccccfs	p.SP536fs	RPN2_ENST00000373622.5_Frame_Shift_Ins_p.SP504fs|RPN2_ENST00000470352.1_Intron	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	536					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CTGAGAAGAGGCCCCCCACCGT	0.574													7	855	---	---	---	---					
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)cccfs	p.P379fs	RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446													7	127	---	---	---	---					
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)ccaaagfs	p.PK775fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	775					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGGAGGCTTTTGGGGGGGCTGG	0.545													25	937	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11038792	11038793	+	RNA	INS	-	-	T	rs8175341		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr21:11038792_11038793insT	ENST00000470054.1	-	0	1410_1411									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACCCATGCCAGTTTTTTGGAGT	0.416													7	806	---	---	---	---					
ITSN1	6453	broad.mit.edu	37	21	35122566	35122567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr21:35122566_35122567insC	ENST00000381318.3	+	6	753_754	c.465_466insC	c.(463-468)gtccccfs	p.VP155fs	ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.VP155fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.VP118fs|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.VP155fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	155					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAGCAGCTGTGCCCCCCCTGGC	0.525													8	215	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)ccaaaafs	p.PK1092fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1092	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406													14	926	---	---	---	---					
KRTAP12-3	386683	broad.mit.edu	37	21	46078127	46078128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr21:46078127_46078128insC	ENST00000397907.1	+	1	279_280	c.231_232insC	c.(229-234)caccccfs	p.HP77fs	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	77	14 X 5 AA approximate repeats.					intermediate filament				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GGTGCTGCCAGCCCCCCTGCAC	0.639													7	211	---	---	---	---					
SERPIND1	3053	broad.mit.edu	37	22	21138419	21138420	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr22:21138419_21138420insG	ENST00000215727.5	+	3	1332_1333	c.1049_1050insG	c.(1048-1050)gggfs	p.G350fs	PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.G350fs	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	350					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CTGGAATACGTGGGGGGCATCA	0.540											OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	372	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr22:42610947_42610948insG	ENST00000359486.3	-	1	500_501	c.364_365insC	c.(364-366)gggfs	p.G122fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGCTCCCCTGGGGGGGTCCA	0.564													24	480	---	---	---	---					
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr22:47188443_47188444insC	ENST00000337137.4	+	2	255_256	c.89_90insC	c.(88-90)cccfs	p.P30fs	TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	30						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGTGCCCAGCACCCCCCCTTTG	0.569													24	415	---	---	---	---					
KIAA2022	340533	broad.mit.edu	37	X	73963268	73963269	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:73963268_73963269insC	ENST00000373468.1	-	3	1774_1775	c.1123_1124insG	c.(1123-1125)ggafs	p.G375fs	KIAA2022_ENST00000055682.5_Frame_Shift_Ins_p.G375fs			Q5QGS0	K2022_HUMAN	KIAA2022	375					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTATCTTCCTCCCCCCAGATG	0.475													10	747	---	---	---	---					
FRMPD3	84443	broad.mit.edu	37	X	106845402	106845403	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:106845402_106845403insG	ENST00000276185.4	+	16	4232_4233	c.4232_4233insG	c.(4231-4233)tggfs	p.W1411fs				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1411						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						ACGTGTGCCTCGGGGGGCGAGT	0.609													7	138	---	---	---	---					
MAP7D3	79649	broad.mit.edu	37	X	135314193	135314194	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chrX:135314193_135314194insG	ENST00000316077.9	-	8	1142_1143	c.922_923insC	c.(922-924)ggtfs	p.G308fs	MAP7D3_ENST00000370661.1_Frame_Shift_Ins_p.G273fs|MAP7D3_ENST00000370663.5_Frame_Shift_Ins_p.G290fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGCA	0.535													13	264	---	---	---	---					
NOTCH2	4853	broad.mit.edu	37	1	120467956	120467957	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr1:120467956_120467957insA	ENST00000256646.2	-	25	4701_4702	c.4482_4483insT	c.(4480-4485)ttaatgfs	p.LM1494fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1494	Negative regulatory region (NRR).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCTGGCATTCAAAGTTGTCAA	0.510			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				42	452	---	---	---	---					
MFSD8	256471	broad.mit.edu	37	4	128842758	128842758	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr4:128842758delA	ENST00000296468.3	-	12	1398	c.1271delT	c.(1270-1272)ggfs	p.V424fs	MFSD8_ENST00000513559.1_Frame_Shift_Del_p.V379fs|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	424					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TCCTATTAGCACAGCTGATGT	0.448													38	136	---	---	---	---					
PLEKHG1	57480	broad.mit.edu	37	6	151151947	151151951	+	Frame_Shift_Del	DEL	CCTCC	CCTCC	-			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr6:151151947_151151951delCCTCC	ENST00000367328.1	+	16	2012_2016	c.1700_1704delCCTCC	c.(1699-1704)tfs	p.SS567fs	PLEKHG1_ENST00000358517.2_Frame_Shift_Del_p.SS567fs	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	567					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CCGTCATTTTCCTCCTCAGATCTGA	0.517													37	184	---	---	---	---					
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr8:144511954_144511956delTGG	ENST00000333480.2	-	1	620_622	c.621_623delCCA	c.(619-624)cat>ca	p.HH207del	MAFA_ENST00000528185.1_5'UTR	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	207	His-rich.				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H208delH(3)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggt	0.744										HNSCC(29;0.082)			2	4	---	---	---	---					
AHNAK	79026	broad.mit.edu	37	11	62301532	62301544	+	Frame_Shift_Del	DEL	CTCATCATCCCCG	CTCATCATCCCCG	-	rs117532364	by1000genomes	TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr11:62301532_62301544delCTCATCATCCCCG	ENST00000378024.4	-	5	619_631	c.345_357delCGGGGATGATGAG	c.(343-357)agfs	p.SGDDE115fs	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	115					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCTGGTACTCCTCATCATCCCCGCTCTGCAGAA	0.596													13	81	---	---	---	---					
DDX54	79039	broad.mit.edu	37	12	113601889	113601891	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01D-0969-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	0473acaa-cd98-4550-9ccf-e2da3a4843b0	g.chr12:113601889_113601891delCCT	ENST00000314045.7	-	15	1946_1948	c.1919_1921delAGG	c.(1918-1923)gcg>g	p.EA640del	DDX54_ENST00000306014.5_In_Frame_Del_p.EA640del	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	640	Interaction with nuclear receptors.				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ctctctcccgcctcctcctcctc	0.680													2	4	---	---	---	---					
KHDRBS1	10657	broad.mit.edu	37	1	32503458	32503459	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:32503458_32503459insG	ENST00000327300.7	+	6	1095_1096	c.928_929insG	c.(928-930)gggfs	p.G310fs	KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Frame_Shift_Ins_p.G271fs	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	310	Arg/Gly-rich.				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGGACCACCTCGGGGGGCTTTG	0.500													8	276	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)ccctatfs	p.Y118fs	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594													17	237	---	---	---	---					
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779	by1000genomes	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:59812016_59812017insG	ENST00000371218.4	+	4	595_596	c.411_412insG	c.(409-414)gtggggfs	p.VG137fs	FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs|FGGY_ENST00000371212.1_Intron	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	137					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.500													22	345	---	---	---	---					
ROR1	4919	broad.mit.edu	37	1	64516358	64516359	+	Splice_Site	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:64516358_64516359insC	ENST00000371079.1	+	4	827_828	c.451_splice	c.e4-1	p.A151_splice	ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Splice_Site_p.A151_splice	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	151					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						ATTTCTTCAGGCCCCCCTCCCA	0.396													7	816	---	---	---	---					
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:89613321_89613322insC	ENST00000294671.2	-	8	1431_1432	c.1293_1294insG	c.(1291-1296)ggacaafs	p.Q432fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	432						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436													9	221	---	---	---	---					
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)gggfs	p.G170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386													10	289	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)catfs	p.H352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505													29	529	---	---	---	---					
SPAG17	200162	broad.mit.edu	37	1	118584454	118584455	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:118584454_118584455insG	ENST00000336338.5	-	21	3090_3091	c.3025_3026insC	c.(3025-3027)ccafs	p.P1009fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1009						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTCTGGTTGGTGGGGGGACTCT	0.371													7	909	---	---	---	---					
NOTCH2	4853	broad.mit.edu	37	1	120467956	120467957	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:120467956_120467957insA	ENST00000256646.2	-	25	4701_4702	c.4482_4483insT	c.(4480-4485)ttaatgfs	p.LM1494fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1494	Negative regulatory region (NRR).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCTGGCATTCAAAGTTGTCAA	0.510			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				72	894	---	---	---	---					
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1624-1629)gaccccfs	p.DP542fs	ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs|ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	542					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554													15	384	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1254)tccfs	p.S418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAGGTTTGCCCCCCGCCAG	0.500													7	422	---	---	---	---					
OTUD7B	56957	broad.mit.edu	37	1	149916719	149916720	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:149916719_149916720insC	ENST00000369135.3	-	12	1862_1863	c.1568_1569insG	c.(1567-1569)gctfs	p.A523fs		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	523					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TGTGCATCAGGCCCCCCATGTT	0.540													8	313	---	---	---	---					
ECM1	1893	broad.mit.edu	37	1	150482150	150482151	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:150482150_150482151insC	ENST00000369047.4	+	3	260_261	c.135_136insC	c.(133-138)gcccccfs	p.AP45fs	ECM1_ENST00000369049.4_Frame_Shift_Ins_p.AP45fs|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Frame_Shift_Ins_p.AP45fs	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	45					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCTACGCAGCTCCCCCCTCCCC	0.584													8	596	---	---	---	---					
SPRR3	6707	broad.mit.edu	37	1	152975813	152975836	+	In_Frame_Del	DEL	ACACCAAGGTCCCTGAACCAGGCA	ACACCAAGGTCCCTGAACCAGGCA	-	rs1970328	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:152975813_152975836delACACCAAGGTCCCTGAACCAGGCA	ENST00000331860.3	+	3	467_490	c.317_340delACACCAAGGTCCCTGAACCAGGCA	c.(316-342)tgc>t	p.YTKVPEPGS106del	SPRR3_ENST00000542696.1_In_Frame_Del_p.YTKVPEPGS98del|SPRR3_ENST00000295367.4_In_Frame_Del_p.YTKVPEPGS106del	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	106	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	p.Y106C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGCCAGGCTACACCAAGGTCCCTGAACCAGGCAGCATCAAGGT	0.567													8	334	---	---	---	---					
ASH1L	55870	broad.mit.edu	37	1	155491185	155491186	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:155491185_155491186insT	ENST00000368346.3	-	2	764_765	c.125_126insA	c.(124-126)aacfs	p.N42fs	ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.N42fs|ASH1L_ENST00000548830.1_Frame_Shift_Ins_p.N42fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	42					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCTCCTTTGTGTTTTTTTCTAG	0.431													11	1784	---	---	---	---					
CD1C	911	broad.mit.edu	37	1	158262099	158262100	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:158262099_158262100insC	ENST00000368170.3	+	3	833_834	c.554_555insC	c.(553-555)tccfs	p.S185fs		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	185					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AGAAGCACTTGCCCCCGATTTC	0.450													7	2722	---	---	---	---					
CACNA1E	777	broad.mit.edu	37	1	181549749	181549750	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:181549749_181549750insC	ENST00000526775.1	+	6	953_954	c.788_789insC	c.(787-789)gccfs	p.A263fs	CACNA1E_ENST00000358338.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000367573.2_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000360108.3_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000367570.1_Frame_Shift_Ins_p.A263fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	263					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAAGGATTTGACCCCCCTCACC	0.505													7	1015	---	---	---	---					
FAM129A	116496	broad.mit.edu	37	1	184764537	184764538	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:184764537_184764538insC	ENST00000367511.3	-	14	2553_2554	c.2360_2361insG	c.(2359-2361)gttfs	p.V787fs	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	787	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CCTCTGGAAATCCCCCCAACTC	0.668													10	584	---	---	---	---					
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:201046125_201046126insC	ENST00000362061.3	-	12	1975_1976	c.1749_1750insG	c.(1747-1752)ggggtafs	p.V584fs	CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	584					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGTCATACCTCCCCCCAAAGA	0.574													8	366	---	---	---	---					
PIK3C2B	5287	broad.mit.edu	37	1	204438071	204438072	+	Frame_Shift_Ins	INS	-	-	G	rs115574296	by1000genomes	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:204438071_204438072insG	ENST00000367187.3	-	3	1415_1416	c.859_860insC	c.(859-861)cacfs	p.H287fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Ins_p.H287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	287	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.R287fs*92(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCATAGGTGCGGGGGGGCACC	0.624													15	182	---	---	---	---					
DIEXF	27042	broad.mit.edu	37	1	210014266	210014267	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:210014266_210014267insC	ENST00000491415.2	+	8	1408_1409	c.1351_1352insC	c.(1351-1353)cccfs	p.P451fs		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	451					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CCTCATTGCTTCCCCCCTGGGC	0.465													7	236	---	---	---	---					
USH2A	7399	broad.mit.edu	37	1	215821895	215821896	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:215821895_215821896insG	ENST00000366943.2	-	66	14942_14943	c.14556_14557insC	c.(14554-14559)cctgttfs	p.V4853fs	USH2A_ENST00000307340.3_Frame_Shift_Ins_p.V4853fs			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4853	Fibronectin type-III 34.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGGGGAACATGGGGGGACTCC	0.540										HNSCC(13;0.011)			7	577	---	---	---	---					
SIX3	6496	broad.mit.edu	37	2	45171841	45171842	+	Frame_Shift_Del	DEL	CA	CA	-	rs338074	by1000genomes	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:45171841_45171842delCA	ENST00000260653.3	+	2	1283_1284	c.941_942delCA	c.(940-942)gfs	p.A314fs		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	314					visual perception	nucleus		p.A314V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACGGAGCGCGCAGACACCGGCA	0.698													6	10	---	---	---	---					
SAP130	79595	broad.mit.edu	37	2	128774049	128774050	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:128774049_128774050insG	ENST00000357702.5	-	4	629_630	c.498_499insC	c.(496-501)ccaggtfs	p.G167fs	SAP130_ENST00000259234.6_Frame_Shift_Ins_p.G141fs|SAP130_ENST00000259235.3_Frame_Shift_Ins_p.G167fs	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	167	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCTGGAACCTTGGGGGGAAGTG	0.530													8	85	---	---	---	---					
NR4A2	4929	broad.mit.edu	37	2	157186373	157186374	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:157186373_157186374insG	ENST00000339562.4	-	3	687_688	c.325_326insC	c.(325-327)gtcfs	p.V109fs	NR4A2_ENST00000409572.1_Frame_Shift_Ins_p.V109fs|NR4A2_ENST00000429376.1_Frame_Shift_Ins_p.V46fs|NR4A2_ENST00000539077.1_Frame_Shift_Ins_p.V120fs|NR4A2_ENST00000409108.2_Frame_Shift_Ins_p.V109fs|NR4A2_ENST00000426264.1_Frame_Shift_Ins_p.V46fs	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	109	Gln-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.Q109fs*3(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CTCCTCAGACTGGGGGGGCAGG	0.604													7	47	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179610611	179610612	+	Frame_Shift_Ins	INS	-	-	A	rs148430495	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:179610611_179610612insA	ENST00000360870.5	-	46	16737_16738	c.16515_16516insT	c.(16513-16518)ttaattfs	p.LI5505fs	TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8982	Ig-like 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTGAAATTCAAAAAAACTGT	0.381													7	302	---	---	---	---					
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cctfs	p.P206fs	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619													11	135	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)gggfs	p.G559fs	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GACTATTTCAAGGGGGGGACTG	0.431													12	765	---	---	---	---					
NYAP2	57624	broad.mit.edu	37	2	226447071	226447072	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:226447071_226447072insC	ENST00000272907.6	+	4	1351_1352	c.938_939insC	c.(937-939)tccfs	p.S313fs	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	313	Pro-rich.																TCAGTGCCATGCCCCCCCAAGG	0.619													10	97	---	---	---	---					
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)cccfs	p.P404fs	INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs|INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535													10	331	---	---	---	---					
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cctfs	p.P202fs	NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs|NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AATCACCAGGTGGGGGGGCAGG	0.535													9	264	---	---	---	---					
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(124-129)ttggggfs	p.LG42fs	KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	42	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465													7	237	---	---	---	---					
VGLL3	389136	broad.mit.edu	37	3	87018182	87018183	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:87018182_87018183insC	ENST00000398399.2	-	3	857_858	c.494_495insG	c.(493-495)ggtfs	p.G165fs	VGLL3_ENST00000383698.3_Frame_Shift_Ins_p.G165fs	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGGATGAACTCCCCCCAAACA	0.579													8	294	---	---	---	---					
MYLK	4638	broad.mit.edu	37	3	123368043	123368044	+	Splice_Site	INS	-	-	G	rs138786404		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr3:123368043_123368044insG	ENST00000360772.3	-	26	4667		c.e26-2		MYLK_ENST00000475616.1_Splice_Site|MYLK_ENST00000360304.3_Splice_Site|MYLK_ENST00000359169.1_Splice_Site|MYLK_ENST00000354792.5_Splice_Site|MYLK_ENST00000346322.5_Splice_Site			Q15746	MYLK_HUMAN	myosin light chain kinase						aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTTCGGCTCTGGGGGGGGCAC	0.624													16	162	---	---	---	---					
ABCG2	9429	broad.mit.edu	37	4	89052270	89052271	+	Frame_Shift_Ins	INS	-	-	T	rs150450599	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr4:89052270_89052271insT	ENST00000237612.3	-	5	1018_1019	c.473_474insA	c.(472-474)agafs	p.R158fs	ABCG2_ENST00000515655.1_Frame_Shift_Ins_p.R158fs	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	158	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TAATCCGTTCGTTTTTTTCATG	0.426													8	841	---	---	---	---					
ANK2	287	broad.mit.edu	37	4	114280134	114280135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr4:114280134_114280135insG	ENST00000357077.4	+	38	10413_10414	c.10360_10361insG	c.(10360-10362)gggfs	p.G3454fs	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Frame_Shift_Ins_p.G3421fs|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3421					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.T3457fs*8(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTTCCTGCAGGGGGGGCACG	0.455													11	167	---	---	---	---					
MFSD8	256471	broad.mit.edu	37	4	128842758	128842758	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr4:128842758delA	ENST00000296468.3	-	12	1398	c.1271delT	c.(1270-1272)ggfs	p.V424fs	MFSD8_ENST00000513559.1_Frame_Shift_Del_p.V379fs|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	424					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TCCTATTAGCACAGCTGATGT	0.448													19	59	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187558038	187558039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr4:187558038_187558039insG	ENST00000441802.2	-	5	3881_3882	c.3672_3673insC	c.(3670-3675)ccaatcfs	p.I1225fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1225	Cadherin 10.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGTTGATTTGGGGGGACTAC	0.361										HNSCC(5;0.00058)			9	1188	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36608557	36608558	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:36608557_36608558insG	ENST00000265113.4	+	2	508_509	c.32_33insG	c.(31-33)aggfs	p.R11fs	SLC1A3_ENST00000506725.1_3'UTR|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.R11fs	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	11					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	GAGCCCAAGATGGGGGGCAGGA	0.455													11	170	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(928-933)atggggfs	p.MG310fs	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	310					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TGGGTGTGATTGGGGGGCAGCT	0.520													9	539	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C	rs151053868		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)ggttacfs	p.Y2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421													11	360	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:127648336_127648337insG	ENST00000508053.1	-	43	5842_5843	c.4868_4869insC	c.(4867-4869)cgtfs	p.R1623fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs			P35556	FBN2_HUMAN	fibrillin 2	1623	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.P1623P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCTATTGACAGGGGGGCATGT	0.505													9	1460	---	---	---	---					
SRA1	10011	broad.mit.edu	37	5	139931628	139931629	+	In_Frame_Ins	INS	-	-	GTC	rs148588257	by1000genomes	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:139931628_139931629insGTC	ENST00000336283.6	-	3	1149_1150	c.328_329insGAC	c.(328-330)gat>GACgat	p.110_110D>DD	SRA1_ENST00000520427.1_5'UTR	NM_001035235.3	NP_001030312.2	Q9HD15	SRA1_HUMAN	steroid receptor RNA activator 1	110				V -> RL (in Ref. 1; AAG02116 and 2; AAL55868).	apoptosis|cell differentiation|cell proliferation|transcription, DNA-dependent	cytoplasm|ribonucleoprotein complex	receptor activity			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCTCCATCACAGCCTCAGAC	0.589													19	98	---	---	---	---					
IK	3550	broad.mit.edu	37	5	140032593	140032594	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:140032593_140032594delGA	ENST00000417647.2	+	5	407_408	c.268_269delGA	c.(268-270)gfs	p.E90fs	IK_ENST00000523672.1_3'UTR	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	90					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGAAATTGAGAGAGAGAGA	0.460													7	206	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)ggggatfs	p.D763fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCTGGATCCTCCCCCCAGCGA	0.579													7	333	---	---	---	---					
PPP2R2B	5521	broad.mit.edu	37	5	145969651	145969652	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr5:145969651_145969652insC	ENST00000394413.3	-	9	1760_1761	c.1190_1191insG	c.(1189-1191)gaafs	p.E397fs	PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.E403fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.E463fs|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000530902.1_5'UTR|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.E455fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.E400fs			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	397					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTCCGCTTGCCCCCCACACA	0.500													10	601	---	---	---	---					
EXOC2	55770	broad.mit.edu	37	6	637793	637794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:637793_637794insG	ENST00000230449.4	-	2	160_161	c.25_26insC	c.(25-27)tgtfs	p.C9fs	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	9	IPT/TIG.				exocytosis|protein transport			p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GCCGGTCACAAGGGGGGGTTGT	0.485													9	312	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599													14	305	---	---	---	---					
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)agcfs	p.S324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411													21	1744	---	---	---	---					
DDR1	780	broad.mit.edu	37	6	30867830	30867831	+	Frame_Shift_Ins	INS	-	-	G	rs146246499	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:30867830_30867831insG	ENST00000361741.4	+	12	1492_1493	c.1297_1298insG	c.(1297-1299)gggfs	p.G433fs	DDR1_ENST00000376575.3_3'UTR|DDR1_ENST00000376570.4_3'UTR|DDR1_ENST00000452441.1_3'UTR|DDR1_ENST00000324771.8_3'UTR|DDR1_ENST00000376568.3_3'UTR|DDR1_ENST00000454612.2_3'UTR|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376567.2_3'UTR|DDR1_ENST00000376569.3_3'UTR			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	0					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TGTACATTTTTGGGGGGAGAGA	0.441													7	244	---	---	---	---					
C6orf25	80739	broad.mit.edu	37	6	31692528	31692529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:31692528_31692529insC	ENST00000375809.3	+	5	558_559	c.547_548insC	c.(547-549)cccfs	p.P183fs	C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000480039.1_Intron	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TTCAGCTCTGTCCCCCCCACAT	0.579													10	241	---	---	---	---					
NOTCH4	4855	broad.mit.edu	37	6	32188294	32188295	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:32188294_32188295insC	ENST00000375023.3	-	6	1184_1185	c.1046_1047insG	c.(1045-1047)gacfs	p.D349fs		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	349	EGF-like 8; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CACAGCTTGTGCCGCCCCAGCC	0.614													9	405	---	---	---	---					
VPS52	6293	broad.mit.edu	37	6	33219719	33219720	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:33219719_33219720insG	ENST00000445902.2	-	18	2041_2042	c.1823_1824insC	c.(1822-1824)cttfs	p.L608fs	VPS52_ENST00000482399.1_3'UTR|HCG25_ENST00000450514.1_RNA|HCG25_ENST00000427196.1_RNA|VPS52_ENST00000436044.2_Frame_Shift_Ins_p.L483fs|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	608					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AACCCCCAAAAGGGGGAGACAG	0.480													8	133	---	---	---	---					
UHRF1BP1	54887	broad.mit.edu	37	6	34791081	34791082	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:34791081_34791082insC	ENST00000192788.5	+	4	465_466	c.294_295insC	c.(292-297)cgccccfs	p.RP98fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.RP98fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	98										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGATCCTCGGCCCCCCAATGG	0.446													10	823	---	---	---	---					
FILIP1	27145	broad.mit.edu	37	6	76018415	76018416	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:76018415_76018416insC	ENST00000237172.7	-	6	3963_3964	c.3633_3634insG	c.(3631-3636)ggagggfs	p.G1212fs	FILIP1_ENST00000393004.2_Intron|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Frame_Shift_Ins_p.G1113fs	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1212										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CCTCAGCCCTTCCCCCCTCCGA	0.505													14	529	---	---	---	---					
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:87725846_87725847insC	ENST00000305344.4	+	2	1497_1498	c.794_795insC	c.(793-795)accfs	p.T265fs	HTR1E_ENST00000369584.1_Frame_Shift_Ins_p.T265fs	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	265					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCCATCAGGATCCCCCCCTTCG	0.510													8	322	---	---	---	---					
REV3L	5980	broad.mit.edu	37	6	111701353	111701354	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:111701353_111701354insC	ENST00000435970.1	-	13	1867_1868	c.1051_1052insG	c.(1051-1053)aagfs	p.K351fs	REV3L_ENST00000368802.3_Frame_Shift_Ins_p.K429fs|REV3L_ENST00000358835.3_Frame_Shift_Ins_p.K429fs|REV3L_ENST00000368805.1_Frame_Shift_Ins_p.K429fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	429					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CCTATTTCTTTCCCCCCGATAT	0.381								DNA polymerases (catalytic subunits)					8	248	---	---	---	---					
ZUFSP	221302	broad.mit.edu	37	6	116967057	116967058	+	Frame_Shift_Ins	INS	-	-	T	rs141299898	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:116967057_116967058insT	ENST00000368576.3	-	9	1751_1752	c.1508_1509insA	c.(1507-1509)acgfs	p.T503fs		NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	503						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		ATAATGTTCGGTTTTTTTTCTC	0.337													9	517	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)gcafs	p.A623fs	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401													22	563	---	---	---	---					
HECA	51696	broad.mit.edu	37	6	139488146	139488147	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:139488146_139488147insG	ENST00000367658.2	+	2	1282_1283	c.997_998insG	c.(997-999)gggfs	p.G333fs	RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	333					respiratory tube development			p.H336fs*25(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GGCAGTTCACAGGGGGGGACAC	0.589													13	249	---	---	---	---					
PLEKHG1	57480	broad.mit.edu	37	6	151151947	151151951	+	Frame_Shift_Del	DEL	CCTCC	CCTCC	-			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:151151947_151151951delCCTCC	ENST00000367328.1	+	16	2012_2016	c.1700_1704delCCTCC	c.(1699-1704)tfs	p.SS567fs	PLEKHG1_ENST00000358517.2_Frame_Shift_Del_p.SS567fs	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	567					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CCGTCATTTTCCTCCTCAGATCTGA	0.517													20	161	---	---	---	---					
EPDR1	54749	broad.mit.edu	37	7	37988587	37988588	+	Frame_Shift_Ins	INS	-	-	T	rs145911941	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:37988587_37988588insT	ENST00000199448.4	+	2	794_795	c.415_416insT	c.(415-417)cggfs	p.R139fs	EPDR1_ENST00000476620.1_Frame_Shift_Ins_p.R37fs|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000425345.1_Frame_Shift_Ins_p.R78fs|EPDR1_ENST00000559325.1_Frame_Shift_Ins_p.R259fs	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	139					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CCAGTACTCCATCGGGGGGCCT	0.510													8	315	---	---	---	---					
C7orf10	79783	broad.mit.edu	37	7	40899961	40899962	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:40899961_40899962insC	ENST00000309930.5	+	15	1323_1324	c.1299_1300insC	c.(1297-1302)ccccccfs	p.PP433fs	C7orf10_ENST00000401647.2_Frame_Shift_Ins_p.PP359fs|C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000335693.4_Frame_Shift_Ins_p.PP407fs	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	407							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						AGGCCAGGCCGCCCCCGCTGCT	0.569													13	824	---	---	---	---					
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621					NR_033416.1																						CTTTCTGTAACTTTTTTTTTTT	0.317													3	3	---	---	---	---					
TRRAP	8295	broad.mit.edu	37	7	98592294	98592295	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:98592294_98592295insC	ENST00000359863.4	+	66	10299_10300	c.10090_10091insC	c.(10090-10092)cccfs	p.P3364fs	TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.P3335fs|TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.P3353fs	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3364					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCTAAAATCACCCCCCACACT	0.540													9	718	---	---	---	---					
SPDYE3	441272	broad.mit.edu	37	7	99912173	99912174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:99912173_99912174insC	ENST00000332397.6	+	6	1185_1186	c.1001_1002insC	c.(1000-1002)accfs	p.T334fs	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	334										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTAGATCCCAGCCCCCCGCGTA	0.569													10	450	---	---	---	---					
ZCWPW1	55063	broad.mit.edu	37	7	100000150	100000151	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:100000150_100000151insT	ENST00000398027.2	-	16	1706_1707	c.1459_1460insA	c.(1459-1461)caafs	p.Q487fs	ZCWPW1_ENST00000324725.6_Frame_Shift_Ins_p.Q367fs|ZCWPW1_ENST00000360951.4_Intron|ZCWPW1_ENST00000490721.1_Frame_Shift_Ins_p.Q367fs	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	487							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTTGGCTTGGTTTTTTGGGTC	0.480													7	3061	---	---	---	---					
EXOC4	60412	broad.mit.edu	37	7	133682284	133682285	+	Frame_Shift_Ins	INS	-	-	C	rs34608222	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:133682284_133682285insC	ENST00000253861.4	+	15	2275_2276	c.2246_2247insC	c.(2245-2247)cccfs	p.P749fs	EXOC4_ENST00000541309.1_Frame_Shift_Ins_p.P37fs|EXOC4_ENST00000545148.1_Frame_Shift_Ins_p.P359fs|EXOC4_ENST00000539845.1_Frame_Shift_Ins_p.P648fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	749					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AACACGGATCTCCCCCCAGTGT	0.460													8	523	---	---	---	---					
TRBV4-2	28616	broad.mit.edu	37	7	142045511	142045512	+	RNA	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr7:142045511_142045512insC	ENST00000390392.3	+	0	160																											TTTGTCCCTTTCCCCCCGCAGT	0.485													11	461	---	---	---	---					
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)cccfs	p.P1552fs	ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421													15	213	---	---	---	---					
KCNB2	9312	broad.mit.edu	37	8	73480396	73480397	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr8:73480396_73480397insA	ENST00000523207.1	+	2	1015_1016	c.427_428insA	c.(427-429)aaafs	p.K143fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	143					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.Q143K(1)|p.E146fs*3(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CAGATATCATCAAAAAAAAGAA	0.446													14	700	---	---	---	---					
ANKRD19P	138649	broad.mit.edu	37	9	95649123	95649124	+	RNA	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr9:95649123_95649124insC	ENST00000473204.1	+	0	2259																											GCAATCTAGCACCCCCCAAAAG	0.540													8	315	---	---	---	---					
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr9:107593322_107593323insC	ENST00000374736.3	-	14	2169_2170	c.1775_1776insG	c.(1774-1776)gttfs	p.V592fs		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	592					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTAGGCGAAGCCCCCCCAGAC	0.540													12	235	---	---	---	---					
TNC	3371	broad.mit.edu	37	9	117797538	117797539	+	Frame_Shift_Ins	INS	-	-	G	rs148674204	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr9:117797538_117797539insG	ENST00000350763.4	-	22	6142_6143	c.5731_5732insC	c.(5731-5733)ggcfs	p.G1911fs	TNC_ENST00000345230.3_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.G1638fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.G1456fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.G1548fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.G1729fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.G1547fs|TNC_ENST00000346706.3_Frame_Shift_Ins_p.G1365fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1911	Fibronectin type-III 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACTGATGCCCGGGGGGGTCGC	0.475													16	363	---	---	---	---					
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr9:118982329_118982330insC	ENST00000328252.3	+	5	2401_2402	c.2032_2033insC	c.(2032-2034)cccfs	p.P678fs	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	678					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTTGCCCTCGCCCCCCAAGTT	0.574													9	498	---	---	---	---					
NUP214	8021	broad.mit.edu	37	9	134073007	134073008	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr9:134073007_134073008insC	ENST00000359428.5	+	29	4270_4271	c.4126_4127insC	c.(4126-4128)cccfs	p.P1376fs	NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000451030.1_Frame_Shift_Ins_p.P1377fs|NUP214_ENST00000483497.2_Frame_Shift_Ins_p.P202fs|NUP214_ENST00000411637.2_Frame_Shift_Ins_p.P1366fs			P35658	NU214_HUMAN	nucleoporin 214kDa	1376	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TAATTTTACTGCCCCCCCGGTG	0.545			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								8	118	---	---	---	---					
BMS1	9790	broad.mit.edu	37	10	43294047	43294048	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr10:43294047_43294048insC	ENST00000374518.4	+	12	2284_2285	c.2221_2222insC	c.(2221-2223)cccfs	p.P741fs		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	741					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCTTGTGGAGGCCCCCCATGAC	0.431													8	426	---	---	---	---					
LINC00959	387723	broad.mit.edu	37	10	131905959	131905960	+	RNA	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr10:131905959_131905960insG	ENST00000456581.1	-	0	114																											CTTTGCCTCCAGGGGGGGAAGG	0.530													10	127	---	---	---	---					
PTPRJ	5795	broad.mit.edu	37	11	48157815	48157816	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:48157815_48157816insG	ENST00000418331.2	+	9	2192_2193	c.1840_1841insG	c.(1840-1842)gggfs	p.G614fs		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	614	Fibronectin type-III 6.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGACCACGTCTGGGGGGACCCC	0.515													7	332	---	---	---	---					
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:48328524_48328525insC	ENST00000319988.1	+	1	750_751	c.750_751insC	c.(748-753)atccccfs	p.IP250fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGTTCTCATGCCCCCCATGTT	0.480													9	709	---	---	---	---					
PATL1	219988	broad.mit.edu	37	11	59425145	59425146	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:59425145_59425146insG	ENST00000300146.9	-	5	562_563	c.478_479insC	c.(478-480)gggfs	p.G160fs		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	160	Pro-rich.|Region N; interaction with decapping machinery.			Q -> H (in Ref. 2; BAG54601).	cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TTCTGGACCCTGGGGGGGCCTC	0.455													7	94	---	---	---	---					
SYTL2	54843	broad.mit.edu	37	11	85435355	85435356	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:85435355_85435356insG	ENST00000359152.5	-	1	3715_3716	c.3716_3717insC	c.(3715-3717)cgafs	p.R1239fs	SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.R715fs|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000527523.1_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	400					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CCCTGTCCTCTGGGGGGGTTAC	0.480													7	145	---	---	---	---					
RDX	5962	broad.mit.edu	37	11	110104136	110104137	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:110104136_110104137insG	ENST00000343115.4	-	13	1731_1732	c.1412_1413insC	c.(1411-1413)cccfs	p.P471fs	RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs|RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000530301.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	471	Glu-rich.|Poly-Pro.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTGGAGGTGGAGGGGGGGCAGA	0.431													13	545	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:113076860_113076861insG	ENST00000316851.7	+	4	556_557	c.556_557insG	c.(556-558)gggfs	p.G186fs	NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495													16	1326	---	---	---	---					
IGSF9B	22997	broad.mit.edu	37	11	133807826	133807827	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:133807826_133807827insG	ENST00000321016.8	-	4	669_670	c.439_440insC	c.(439-441)gtafs	p.V147fs	IGSF9B_ENST00000533871.2_Frame_Shift_Ins_p.V147fs			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	147	Ig-like 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCGATGTACTGGGGGGGTGTT	0.574													9	74	---	---	---	---					
NCAPD3	23310	broad.mit.edu	37	11	134048585	134048586	+	Frame_Shift_Ins	INS	-	-	G	rs138442478		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:134048585_134048586insG	ENST00000534548.2	-	22	2789_2790	c.2725_2726insC	c.(2725-2727)ggtfs	p.G909fs		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	909					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.Q909fs*12(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCTCTGACCTGGGGGGGTGGC	0.525													8	262	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr12:14019043_14019044insG	ENST00000279593.3	-	2	308_309	c.99_100insC	c.(97-102)ccgcatfs	p.H34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCCAATGCTGGGGGGGCTCT	0.589													7	167	---	---	---	---					
NACA	4666	broad.mit.edu	37	12	57115173	57115174	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr12:57115173_57115174insG	ENST00000454682.1	-	3	421_422	c.140_141insC	c.(139-141)cccfs	p.P47fs	NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Frame_Shift_Ins_p.P47fs|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GAGAGCAAGGAGGGGGGAGGGT	0.554			T	BCL6	NHL								8	143	---	---	---	---					
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr12:69233089_69233090insC	ENST00000462284.1	+	11	1256_1257	c.954_955insC	c.(952-957)aaccccfs	p.NP318fs	MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	312	Necessary for interaction with USP2.|Region II.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""								8	211	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)cgtfs	p.R1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371													16	286	---	---	---	---					
HECTD4	283450	broad.mit.edu	37	12	112600859	112600860	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr12:112600859_112600860insG	ENST00000550722.1	-	75	13063_13064	c.12668_12669insC	c.(12667-12669)cgafs	p.R4223fs	HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.R4197fs|HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.R3947fs	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CTGTGCCATCTGGGGGGGCGAT	0.629													13	174	---	---	---	---					
ATP12A	479	broad.mit.edu	37	13	25262563	25262564	+	Frame_Shift_Ins	INS	-	-	G	rs35191129		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr13:25262563_25262564insG	ENST00000218548.6	+	4	668_669	c.335_336insG	c.(334-336)gggfs	p.G112fs	ATP12A_ENST00000381946.3_Frame_Shift_Ins_p.G112fs	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	112					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.V112V(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AAGCAGATGGTGGGGGGGTTCT	0.584													22	525	---	---	---	---					
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggagafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.470													14	228	---	---	---	---					
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr14:63174302_63174303insG	ENST00000322893.7	-	11	3158_3159	c.2890_2891insC	c.(2890-2892)gatfs	p.D964fs	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	964					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATGGTATCTGGGGGGGTACT	0.391													10	270	---	---	---	---					
SIPA1L1	26037	broad.mit.edu	37	14	72165808	72165809	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr14:72165808_72165809insG	ENST00000555818.1	+	11	3833_3834	c.3485_3486insG	c.(3484-3486)gggfs	p.G1162fs	SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.G1162fs|SIPA1L1_ENST00000537413.1_Frame_Shift_Ins_p.G637fs|SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.G1162fs	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1162					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACTGGTTCTGTGGGGGGCACTT	0.495													9	339	---	---	---	---					
IGHV4-39	28394	broad.mit.edu	37	14	106877817	106877819	+	RNA	DEL	ACT	ACT	-	rs113800876		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr14:106877817_106877819delACT	ENST00000390619.2	-	0	224_226																											CCCAGTAGTAACTACTACTGCTG	0.596													17	38	---	---	---	---					
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)gggfs	p.G150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.500													25	1042	---	---	---	---					
ZNF609	23060	broad.mit.edu	37	15	64967993	64967994	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr15:64967993_64967994insC	ENST00000326648.3	+	4	3068_3069	c.2940_2941insC	c.(2938-2943)gtccccfs	p.VP980fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	980						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGCCTATGTACCCCCCTATGG	0.550													11	955	---	---	---	---					
SNX29	92017	broad.mit.edu	37	16	12162916	12162917	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:12162916_12162917insC	ENST00000566228.1	+	10	1315_1316	c.1246_1247insC	c.(1246-1248)cccfs	p.P416fs	SNX29_ENST00000323433.4_Frame_Shift_Ins_p.P31fs|SNX29_ENST00000306030.3_Frame_Shift_Ins_p.P31fs	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	31					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CTGCACAGATGCCCCCCTCGGA	0.495													9	616	---	---	---	---					
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3300)tccfs	p.S1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475													16	706	---	---	---	---					
ACSM5	54988	broad.mit.edu	37	16	20429391	20429392	+	Frame_Shift_Ins	INS	-	-	C	rs149315908	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:20429391_20429392insC	ENST00000331849.4	+	3	362_363	c.215_216insC	c.(214-216)cccfs	p.P72fs	ACSM5_ENST00000575584.1_Frame_Shift_Ins_p.P72fs	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	72					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GCTGGACACCGCCCCCCAAATC	0.455													11	234	---	---	---	---					
ACSM5	54988	broad.mit.edu	37	16	20429493	20429494	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:20429493_20429494insG	ENST00000331849.4	+	3	464_465	c.317_318insG	c.(316-318)cggfs	p.R106fs	ACSM5_ENST00000575584.1_Frame_Shift_Ins_p.R106fs	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	106					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.L106L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GCCAATGTGCTGGGGGGTGCAT	0.619													7	248	---	---	---	---					
POLR3E	55718	broad.mit.edu	37	16	22339833	22339834	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:22339833_22339834insC	ENST00000299853.5	+	19	2036_2037	c.1869_1870insC	c.(1867-1872)ttccccfs	p.FP623fs	POLR3E_ENST00000564209.1_Frame_Shift_Ins_p.FP623fs|POLR3E_ENST00000418581.2_Frame_Shift_Ins_p.FP587fs|POLR3E_ENST00000359210.4_Frame_Shift_Ins_p.FP623fs	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	623					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		TTGGTCAGTTTCCCCCCCAGAC	0.574													7	154	---	---	---	---					
C16orf87	388272	broad.mit.edu	37	16	46843530	46843531	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr16:46843530_46843531insT	ENST00000285697.4	-	3	591_592	c.330_331insA	c.(328-333)aaatgafs	p.*111fs	C16orf87_ENST00000564250.1_5'UTR|C16orf87_ENST00000394806.2_Intron	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	111										large_intestine(4)|urinary_tract(1)	5						TCTTCCTCATGTTTTTTGGCAG	0.351													7	554	---	---	---	---					
RPA1	6117	broad.mit.edu	37	17	1782982	1782983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr17:1782982_1782983insG	ENST00000254719.5	+	11	1191_1192	c.1081_1082insG	c.(1081-1083)gggfs	p.G361fs		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	361					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGCTACACTGTGGGGGGAAGAT	0.530								Nucleotide excision repair (NER)					8	691	---	---	---	---					
DNAH2	146754	broad.mit.edu	37	17	7646597	7646597	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr17:7646597delT	ENST00000570791.1	+	14	2372	c.2287delT	c.(2287-2289)ttfs	p.F765fs	DNAH2_ENST00000389173.2_Intron|DNAH2_ENST00000082259.3_Frame_Shift_Del_p.F765fs|DNAH2_ENST00000572933.1_Intron			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	0	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GTCATTTTACTTTTTTTTTTC	0.338													2	4	---	---	---	---					
HNF1B	6928	broad.mit.edu	37	17	36059173	36059174	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr17:36059173_36059174insG	ENST00000225893.4	-	8	1922_1923	c.1561_1562insC	c.(1561-1563)gtafs	p.V521fs	HNF1B_ENST00000561193.1_Frame_Shift_Ins_p.V495fs|HNF1B_ENST00000427275.2_Intron|HNF1B_ENST00000560016.1_Intron	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	521					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTGGGAATACTGGGGGGGTTCC	0.515													11	200	---	---	---	---					
CDK12	51755	broad.mit.edu	37	17	37687471	37687472	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr17:37687471_37687472insG	ENST00000447079.4	+	14	4408_4409	c.4375_4376insG	c.(4375-4377)gggfs	p.G1459fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.G1450fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1459					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGGCCTTCACTGGGGGGGCCCA	0.559			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			9	137	---	---	---	---					
MARCH10	162333	broad.mit.edu	37	17	60814265	60814266	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr17:60814265_60814266insC	ENST00000544856.2	-	7	1338_1339	c.960_961insG	c.(958-963)ggcatcfs	p.I321fs	MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	322							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGGGTCGATGTCCCCCCAAATC	0.460													9	993	---	---	---	---					
MYOM1	8736	broad.mit.edu	37	18	3142039	3142040	+	Frame_Shift_Ins	INS	-	-	G	rs138431527	by1000genomes	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr18:3142039_3142040insG	ENST00000356443.4	-	14	2255_2256	c.1922_1923insC	c.(1921-1923)cacfs	p.H641fs	MYOM1_ENST00000400569.3_Frame_Shift_Ins_p.H641fs|MYOM1_ENST00000261606.7_Frame_Shift_Ins_p.H641fs	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	641	Fibronectin type-III 2.					striated muscle myosin thick filament	structural constituent of muscle	p.P641Q(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGAGGTCTGTCGGGGGGCCAGG	0.545													9	277	---	---	---	---					
ZNF532	55205	broad.mit.edu	37	18	56585962	56585963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr18:56585962_56585963insC	ENST00000336078.4	+	4	1219_1220	c.443_444insC	c.(442-444)gccfs	p.A148fs	ZNF532_ENST00000591230.1_Frame_Shift_Ins_p.A148fs|ZNF532_ENST00000591808.1_Frame_Shift_Ins_p.A148fs|ZNF532_ENST00000591083.1_Frame_Shift_Ins_p.A148fs|ZNF532_ENST00000589288.1_Frame_Shift_Ins_p.A148fs	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GAGGTGGATGACCCCCCTGACA	0.554													9	964	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:9064309_9064310insG	ENST00000397910.4	-	3	23339_23340	c.23136_23137insC	c.(23134-23139)ccctccfs	p.S7713fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7715	Ser-rich.|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						GGAAGGGGAGAGGGGGGGATAT	0.530													8	263	---	---	---	---					
C19orf12	83636	broad.mit.edu	37	19	30193878	30193879	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:30193878_30193879insC	ENST00000323670.9	-	3	305_306	c.166_167insG	c.(166-168)tgtfs	p.C56fs	C19orf12_ENST00000392276.1_5'UTR|C19orf12_ENST00000392275.1_5'UTR|C19orf12_ENST00000392278.2_Frame_Shift_Ins_p.C67fs|C19orf12_ENST00000592153.1_Frame_Shift_Ins_p.C56fs	NM_001256047.1|NM_031448.4	NP_001242976.1|NP_113636.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	56						integral to membrane						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			CCCCCCGACAGCCCCCCCTAGA	0.525													7	170	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769061	31769062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:31769061_31769062insC	ENST00000240587.4	-	2	1964_1965	c.1637_1638insG	c.(1636-1638)gtafs	p.V546fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	546					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCTGGGATAGCCCCCCCAGCT	0.559													14	419	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:31769141_31769142insC	ENST00000240587.4	-	2	1884_1885	c.1557_1558insG	c.(1555-1560)ggttgafs	p.*520fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	520					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGATATCAAGCCCCCCCTTGG	0.500													10	534	---	---	---	---					
LGALS17A	400696	broad.mit.edu	37	19	40172016	40172017	+	RNA	INS	-	-	G	rs28457128	by1000genomes	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:40172016_40172017insG	ENST00000412609.1	+	0	61																											GAATCTGTTACGGGGGGGAGGC	0.584													7	134	---	---	---	---					
FBL	2091	broad.mit.edu	37	19	40325192	40325193	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:40325192_40325193insG	ENST00000221801.3	-	9	1064_1065	c.951_952insC	c.(949-954)ccaggtfs	p.G318fs	FBL_ENST00000593503.1_5'UTR	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	318					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TTCTTCACCTTGGGGGGTGGCC	0.505													7	426	---	---	---	---					
FCGBP	8857	broad.mit.edu	37	19	40433821	40433822	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:40433821_40433822insG	ENST00000221347.6	-	2	454_455	c.447_448insC	c.(445-450)ccgcacfs	p.H150fs		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	150	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCTGAGGTGCCGGGGGGTGTGA	0.604													8	251	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:43439519_43439520insC	ENST00000446844.3	-	0	520				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515													8	722	---	---	---	---					
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr20:333922_333923insC	ENST00000382291.3	+	4	498_499	c.258_259insC	c.(256-261)gtccccfs	p.VP86fs	NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs|NRSN2_ENST00000492242.1_3'UTR	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	86						integral to membrane|plasma membrane|transport vesicle				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GCTATGCAGTGCCCCCCAAGCT	0.644													7	107	---	---	---	---					
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr20:23667825_23667826insC	ENST00000217423.3	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAAG	0.554													10	294	---	---	---	---					
NECAB3	63941	broad.mit.edu	37	20	32247349	32247350	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr20:32247349_32247350insG	ENST00000246190.6	-	8	887_888	c.832_833insC	c.(832-834)gctfs	p.A278fs	NECAB3_ENST00000375238.4_Frame_Shift_Ins_p.A244fs|NECAB3_ENST00000606525.1_5'UTR	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	278					antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding			large_intestine(3)|lung(5)|skin(2)	10						GGGTTCCAGCCGGGGGGCCTGT	0.698													3	3	---	---	---	---					
AAR2	25980	broad.mit.edu	37	20	34828224	34828229	+	In_Frame_Del	DEL	TGGAGA	TGGAGA	-	rs138100023		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr20:34828224_34828229delTGGAGA	ENST00000373932.3	+	2	780_785	c.434_439delTGGAGA	c.(433-441)gag>g	p.VEK145del	AAR2_ENST00000397286.3_In_Frame_Del_p.VEK145del|AAR2_ENST00000320849.4_In_Frame_Del_p.VEK145del	NM_015511.3	NP_056326.2			AAR2 splicing factor homolog (S. cerevisiae)																		GAAGCCACAGTGGAGAAGCTACAGCC	0.568													31	298	---	---	---	---					
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)cccfs	p.P379fs	RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446													7	127	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11038792	11038793	+	RNA	INS	-	-	T	rs8175341		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr21:11038792_11038793insT	ENST00000470054.1	-	0	1410_1411									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACCCATGCCAGTTTTTTGGAGT	0.416													7	806	---	---	---	---					
ITSN1	6453	broad.mit.edu	37	21	35122566	35122567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr21:35122566_35122567insC	ENST00000381318.3	+	6	753_754	c.465_466insC	c.(463-468)gtccccfs	p.VP155fs	ITSN1_ENST00000381291.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399352.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399338.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000381285.4_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399326.3_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399349.1_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399367.3_Frame_Shift_Ins_p.VP155fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399355.2_Frame_Shift_Ins_p.VP155fs|ITSN1_ENST00000399353.1_Frame_Shift_Ins_p.VP118fs|ITSN1_ENST00000379960.5_Frame_Shift_Ins_p.VP155fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	155					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CAGCAGCTGTGCCCCCCCTGGC	0.525													8	215	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)ccaaaafs	p.PK1092fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1092	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406													14	926	---	---	---	---					
KRTAP12-3	386683	broad.mit.edu	37	21	46078127	46078128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr21:46078127_46078128insC	ENST00000397907.1	+	1	279_280	c.231_232insC	c.(229-234)caccccfs	p.HP77fs	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	77	14 X 5 AA approximate repeats.					intermediate filament				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GGTGCTGCCAGCCCCCCTGCAC	0.639													7	211	---	---	---	---					
TMPRSS6	164656	broad.mit.edu	37	22	37499435	37499436	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr22:37499435_37499436insG	ENST00000381792.2	-	2	162_163	c.22_23insC	c.(22-24)ggtfs	p.G8fs	TMPRSS6_ENST00000406725.1_Frame_Shift_Ins_p.G8fs|TMPRSS6_ENST00000442782.2_Frame_Shift_Ins_p.G17fs|TMPRSS6_ENST00000346753.3_Frame_Shift_Ins_p.G17fs|TMPRSS6_ENST00000406856.1_Frame_Shift_Ins_p.G8fs			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	17					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GCCAGCCACCTGGGGGGCCTCG	0.658													7	431	---	---	---	---					
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr22:47188443_47188444insC	ENST00000337137.4	+	2	255_256	c.89_90insC	c.(88-90)cccfs	p.P30fs	TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	30						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGTGCCCAGCACCCCCCCTTTG	0.569													24	415	---	---	---	---					
KIAA2022	340533	broad.mit.edu	37	X	73963268	73963269	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chrX:73963268_73963269insC	ENST00000373468.1	-	3	1774_1775	c.1123_1124insG	c.(1123-1125)ggafs	p.G375fs	KIAA2022_ENST00000055682.5_Frame_Shift_Ins_p.G375fs			Q5QGS0	K2022_HUMAN	KIAA2022	375					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTATCTTCCTCCCCCCAGATG	0.475													10	747	---	---	---	---					
FRMPD3	84443	broad.mit.edu	37	X	106845402	106845403	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chrX:106845402_106845403insG	ENST00000276185.4	+	16	4232_4233	c.4232_4233insG	c.(4231-4233)tggfs	p.W1411fs				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1411						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						ACGTGTGCCTCGGGGGGCGAGT	0.609													7	138	---	---	---	---					
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1																						CAGCAGCAGCCAGCTGAGCACC	0.718													4	8	---	---	---	---					
NOTCH2	4853	broad.mit.edu	37	1	120467956	120467957	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr1:120467956_120467957insA	ENST00000256646.2	-	25	4701_4702	c.4482_4483insT	c.(4480-4485)ttaatgfs	p.LM1494fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1494	Negative regulatory region (NRR).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCTGGCATTCAAAGTTGTCAA	0.510			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				42	452	---	---	---	---					
MFSD8	256471	broad.mit.edu	37	4	128842758	128842758	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr4:128842758delA	ENST00000296468.3	-	12	1398	c.1271delT	c.(1270-1272)ggfs	p.V424fs	MFSD8_ENST00000513559.1_Frame_Shift_Del_p.V379fs|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	424					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TCCTATTAGCACAGCTGATGT	0.448													38	136	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32521843	32521844	+	RNA	DEL	CT	CT	-	rs67101368		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:32521843_32521844delCT	ENST00000411500.1	-	0	740					NR_001298.1																						AGAAGGCTACCTCCTGTAAGAA	0.356													2	4	---	---	---	---					
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs60664426		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)del	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis|rRNA processing	nucleolus		p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777													3	4	---	---	---	---					
PLEKHG1	57480	broad.mit.edu	37	6	151151947	151151951	+	Frame_Shift_Del	DEL	CCTCC	CCTCC	-			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr6:151151947_151151951delCCTCC	ENST00000367328.1	+	16	2012_2016	c.1700_1704delCCTCC	c.(1699-1704)tfs	p.SS567fs	PLEKHG1_ENST00000358517.2_Frame_Shift_Del_p.SS567fs	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	567					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CCGTCATTTTCCTCCTCAGATCTGA	0.517													37	184	---	---	---	---					
SPON1	10418	broad.mit.edu	37	11	14101781	14101782	+	RNA	INS	-	-	T	rs72219431		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:14101781_14101782insT	ENST00000310358.7	+	0	1211							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		TAttttttttcttttttttttt	0.441													3	6	---	---	---	---					
RP11-428C19.4	0	broad.mit.edu	37	11	19296062	19296063	+	RNA	INS	-	-	AAA	rs34104745		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:19296062_19296063insAAA	ENST00000527978.1	+	0	339																											gactctgtttcaaaaaaaaaaa	0.480													4	2	---	---	---	---					
AHNAK	79026	broad.mit.edu	37	11	62301532	62301544	+	Frame_Shift_Del	DEL	CTCATCATCCCCG	CTCATCATCCCCG	-	rs117532364	by1000genomes	TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr11:62301532_62301544delCTCATCATCCCCG	ENST00000378024.4	-	5	619_631	c.345_357delCGGGGATGATGAG	c.(343-357)agfs	p.SGDDE115fs	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	115					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCTGGTACTCCTCATCATCCCCGCTCTGCAGAA	0.596													13	81	---	---	---	---					
TPTE2P1	646405	broad.mit.edu	37	13	25539852	25539852	+	RNA	DEL	G	G	-			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr13:25539852delG	ENST00000429698.1	-	0	282																											tttgtttTTTGGTAgagtctt	0.448													2	4	---	---	---	---					
PABPC3	5042	broad.mit.edu	37	13	25671333	25671333	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr13:25671333delA	ENST00000281589.3	+	1	1034	c.997delA	c.(997-999)aafs	p.K333fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	333	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.F335fs*19(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGGTCGCAGCAAAGGGTTTGG	0.428													7	222	---	---	---	---					
KANK3	256949	broad.mit.edu	37	19	8398950	8398961	+	In_Frame_Del	DEL	TCGCTGTCGCCA	TCGCTGTCGCCA	-	rs111751275		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	6117d52f-9df2-4df1-bf24-590126de0f8c	g.chr19:8398950_8398961delTCGCTGTCGCCA	ENST00000330915.3	-	5	1532_1543	c.1467_1478delTGGCGACAGCGA	c.(1465-1479)gag>ga	p.DGDSE489del	KANK3_ENST00000593649.1_In_Frame_Del_p.DGDSE489del	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	489								p.D489_S492delDGDS(2)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC	0.717													2	4	---	---	---	---					
NOTCH2	4853	broad.mit.edu	37	1	120467956	120467957	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:120467956_120467957insA	ENST00000256646.2	-	25	4701_4702	c.4482_4483insT	c.(4480-4485)ttaatgfs	p.LM1494fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1494	Negative regulatory region (NRR).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCTGGCATTCAAAGTTGTCAA	0.510			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				72	894	---	---	---	---					
RP11-640M9.2	0	broad.mit.edu	37	1	144597983	144597991	+	RNA	DEL	CAGATAGAC	CAGATAGAC	-	rs111294330		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:144597983_144597991delCAGATAGAC	ENST00000419820.1	+	0	439																											TATACGTGTACAGATAGACCAGATAGACC	0.402													3	6	---	---	---	---					
SPRR3	6707	broad.mit.edu	37	1	152975813	152975836	+	In_Frame_Del	DEL	ACACCAAGGTCCCTGAACCAGGCA	ACACCAAGGTCCCTGAACCAGGCA	-	rs1970328	byFrequency	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:152975813_152975836delACACCAAGGTCCCTGAACCAGGCA	ENST00000331860.3	+	3	467_490	c.317_340delACACCAAGGTCCCTGAACCAGGCA	c.(316-342)tgc>t	p.YTKVPEPGS106del	SPRR3_ENST00000542696.1_In_Frame_Del_p.YTKVPEPGS98del|SPRR3_ENST00000295367.4_In_Frame_Del_p.YTKVPEPGS106del	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	106	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	p.Y106C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGCCAGGCTACACCAAGGTCCCTGAACCAGGCAGCATCAAGGT	0.567													8	334	---	---	---	---					
SIX3	6496	broad.mit.edu	37	2	45171841	45171842	+	Frame_Shift_Del	DEL	CA	CA	-	rs338074	by1000genomes	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:45171841_45171842delCA	ENST00000260653.3	+	2	1283_1284	c.941_942delCA	c.(940-942)gfs	p.A314fs		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	314					visual perception	nucleus		p.A314V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACGGAGCGCGCAGACACCGGCA	0.698													6	10	---	---	---	---					
MFSD9	84804	broad.mit.edu	37	2	103334977	103334978	+	Frame_Shift_Ins	INS	-	-	G	rs145424077		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr2:103334977_103334978insG	ENST00000258436.5	-	6	1369_1370	c.1326_1327insC	c.(1324-1329)ccgcctfs	p.P443fs		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	443					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GCGCCCAGGCTGGGGGGGCCGC	0.554													9	79	---	---	---	---					
PLEKHG1	57480	broad.mit.edu	37	6	151151947	151151951	+	Frame_Shift_Del	DEL	CCTCC	CCTCC	-			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr6:151151947_151151951delCCTCC	ENST00000367328.1	+	16	2012_2016	c.1700_1704delCCTCC	c.(1699-1704)tfs	p.SS567fs	PLEKHG1_ENST00000358517.2_Frame_Shift_Del_p.SS567fs	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	567					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CCGTCATTTTCCTCCTCAGATCTGA	0.517													20	161	---	---	---	---					
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621					NR_033416.1																						CTTTCTGTAACTTTTTTTTTTT	0.317													3	3	---	---	---	---					
RP11-171L9.1	0	broad.mit.edu	37	12	78895740	78895741	+	RNA	INS	-	-	T	rs141088188	by1000genomes	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr12:78895740_78895741insT	ENST00000546865.1	-	0	85																											cctcctcccccatctcctcctc	0.371													3	3	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	by1000genomes	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													4	2	---	---	---	---					
LOC100996425	100996425	broad.mit.edu	37	16	80914895	80914896	+	RNA	DEL	GA	GA	-	rs60296336	by1000genomes	TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr16:80914895_80914896delGA	ENST00000562231.1	-	0	91																											gaaagggagggagagagagaga	0.470													2	4	---	---	---	---					
UPF3AP2	147150	broad.mit.edu	37	17	20279654	20279655	+	RNA	INS	-	-	T			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr17:20279654_20279655insT	ENST00000578315.1	-	0	51_52																											atctgtctctcttttttttttt	0.381													3	2	---	---	---	---					
RAB11FIP4	84440	broad.mit.edu	37	17	29758897	29758898	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr17:29758897_29758898insG	ENST00000325874.8	+	2	455_456	c.226_227insG	c.(226-228)gggfs	p.G76fs		NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	76	EF-hand.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	p.?(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GGACTTTTGCCGGGGGGTGTTC	0.579													9	182	---	---	---	---					
NECAB3	63941	broad.mit.edu	37	20	32247349	32247350	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr20:32247349_32247350insG	ENST00000246190.6	-	8	887_888	c.832_833insC	c.(832-834)gctfs	p.A278fs	NECAB3_ENST00000606525.1_5'UTR|NECAB3_ENST00000375238.4_Frame_Shift_Ins_p.A244fs	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	278					antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding			large_intestine(3)|lung(5)|skin(2)	10						GGGTTCCAGCCGGGGGGCCTGT	0.698													3	3	---	---	---	---					
AAR2	25980	broad.mit.edu	37	20	34828224	34828229	+	In_Frame_Del	DEL	TGGAGA	TGGAGA	-	rs138100023		TCGA-44-2662-01A-01W-0928-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a76f567-93de-45d2-bad1-10f0c0b1f107	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr20:34828224_34828229delTGGAGA	ENST00000373932.3	+	2	780_785	c.434_439delTGGAGA	c.(433-441)gag>g	p.VEK145del	AAR2_ENST00000397286.3_In_Frame_Del_p.VEK145del|AAR2_ENST00000320849.4_In_Frame_Del_p.VEK145del	NM_015511.3	NP_056326.2			AAR2 splicing factor homolog (S. cerevisiae)																		GAAGCCACAGTGGAGAAGCTACAGCC	0.568													31	298	---	---	---	---					
NOTCH2	4853	broad.mit.edu	37	1	120467956	120467957	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:120467956_120467957insA	ENST00000256646.2	-	25	4701_4702	c.4482_4483insT	c.(4480-4485)ttaatgfs	p.LM1494fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1494	Negative regulatory region (NRR).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCTGGCATTCAAAGTTGTCAA	0.510			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				42	452	---	---	---	---					
SRGAP2B	647135	broad.mit.edu	37	1	144043905	144043906	+	RNA	INS	-	-	G			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr1:144043905_144043906insG	ENST00000467933.1	+	0	1108																											tcgctcacgctggagctgtaga	0.535													9	31	---	---	---	---					
FRG1	2483	broad.mit.edu	37	4	190873437	190873439	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr4:190873437_190873439delAAG	ENST00000226798.4	+	3	476_478	c.254_256delAAG	c.(253-258)aaa>a	p.KE85del	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	85					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GCTCCACACAAAGAAGGTTTGTG	0.414													9	261	---	---	---	---					
PLEKHG1	57480	broad.mit.edu	37	6	151151947	151151951	+	Frame_Shift_Del	DEL	CCTCC	CCTCC	-			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr6:151151947_151151951delCCTCC	ENST00000367328.1	+	16	2012_2016	c.1700_1704delCCTCC	c.(1699-1704)tfs	p.SS567fs	PLEKHG1_ENST00000358517.2_Frame_Shift_Del_p.SS567fs	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	567					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CCGTCATTTTCCTCCTCAGATCTGA	0.517													37	184	---	---	---	---					
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGCGGC	rs3833707	by1000genomes	TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr9:12775861_12775862insGGCGGCGGC	ENST00000319264.3	+	1	842_843	c.147_148insGGCGGCGGC	c.(145-150)gggcgg>ggGGCGGCGGCgcgg	p.49_50GR>GAAAR	LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN	leucine rich adaptor protein 1-like	49	Gly-rich.		Missing.					p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688													6	4	---	---	---	---					
PHRF1	57661	broad.mit.edu	37	11	608503	608514	+	In_Frame_Del	DEL	GGACGCGCTCTG	GGACGCGCTCTG	-	rs113708663		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:608503_608514delGGACGCGCTCTG	ENST00000264555.5	+	14	3175_3186	c.3047_3058delGGACGCGCTCTG	c.(3046-3060)cgg>c	p.RTRSG1016del	PHRF1_ENST00000413872.2_In_Frame_Del_p.RTRSG1014del|PHRF1_ENST00000416188.2_In_Frame_Del_p.RTRSG1015del|PHRF1_ENST00000533464.1_In_Frame_Del_p.RTRSG1012del	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1016	Arg-rich.						RNA polymerase binding|zinc ion binding	p.G1020_S1023delGTRS(2)|p.R1023L(1)|p.R1018L(1)|p.G1025_S1028delGTRS(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GAGCACGGACGGACGCGCTCTGGGACGCGCTC	0.675													8	34	---	---	---	---					
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754	byFrequency	TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cca>c	p.PPT469del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	469	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573													10	12	---	---	---	---					
RP11-428C19.4	0	broad.mit.edu	37	11	19296062	19296063	+	RNA	INS	-	-	AAA	rs34104745		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:19296062_19296063insAAA	ENST00000527978.1	+	0	339																											gactctgtttcaaaaaaaaaaa	0.480													4	2	---	---	---	---					
AHNAK	79026	broad.mit.edu	37	11	62301532	62301544	+	Frame_Shift_Del	DEL	CTCATCATCCCCG	CTCATCATCCCCG	-	rs117532364	by1000genomes	TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr11:62301532_62301544delCTCATCATCCCCG	ENST00000378024.4	-	5	619_631	c.345_357delCGGGGATGATGAG	c.(343-357)agfs	p.SGDDE115fs	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	115					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCTGGTACTCCTCATCATCCCCGCTCTGCAGAA	0.596													13	81	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	RNA	INS	-	-	C	rs36063533		TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													8	32	---	---	---	---					
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													4	6	---	---	---	---					
TPTE2P1	646405	broad.mit.edu	37	13	25539852	25539852	+	RNA	DEL	G	G	-			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr13:25539852delG	ENST00000429698.1	-	0	282																											tttgtttTTTGGTAgagtctt	0.448													2	4	---	---	---	---					
ITGAL	3683	broad.mit.edu	37	16	30531249	30531251	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr16:30531249_30531251delGCT	ENST00000356798.6	+	30	3480_3482	c.3300_3302delGCT	c.(3298-3303)ggg>gg	p.GL1100del	ITGAL_ENST00000358164.5_In_Frame_Del_p.GL1016del|ITGAL_ENST00000433423.2_In_Frame_Del_p.GL334del	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1100					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GCATCGGGGGGCTGCTGCTGCTG	0.601													9	562	---	---	---	---					
UPF3AP2	147150	broad.mit.edu	37	17	20279654	20279655	+	RNA	INS	-	-	T			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr17:20279654_20279655insT	ENST00000578315.1	-	0	51_52																											atctgtctctcttttttttttt	0.381													7	2	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)cafs	p.L454fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					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			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						TGCTTTTTGTAGATTAAAGGC	0.308													8	74	---	---	---	---					
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT			TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(22-27)acatcg>acTATatcg	p.8_9TS>TIS		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													10	35	---	---	---	---					
KANTR	102723508	broad.mit.edu	37	X	53142508	53142509	+	RNA	INS	-	-	A	rs145002653	by1000genomes	TCGA-44-2662-01A-01D-0969-08	TCGA-44-2662-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	773139df-8eb3-44e5-b434-3e7a43a9a9e0	4857cb5c-6943-45ea-aac6-67d81caec89a	g.chrX:53142508_53142509insA	ENST00000604849.1	+	0	96																											AACACACACACAAAAAAAAACC	0.356													4	2	---	---	---	---					
