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
NEK5	341676	broad.mit.edu	37	13	52686454	52686454	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr13:52686454G>A	ENST00000355568.4	-	5	401	c.262C>T	c.(262-264)Ctc>Ttc	p.L88F		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	88	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CTTTTCATGAGATCCCCTCCA	0.373000													6	80					0	0	0.00198382	0	0
TBC1D31	93594	broad.mit.edu	37	8	124156985	124156985	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr8:124156985G>A	ENST00000287380.1	+	20	2954	c.2864G>A	c.(2863-2865)cGt>cAt	p.R955H	TBC1D31_ENST00000522420.1_Missense_Mutation_p.R850H|TBC1D31_ENST00000521676.1_Missense_Mutation_p.R832H|TBC1D31_ENST00000518805.1_Missense_Mutation_p.R509H|TBC1D31_ENST00000378080.2_3'UTR|TBC1D31_ENST00000327098.5_Missense_Mutation_p.R859H|TBC1D31_ENST00000309336.3_Missense_Mutation_p.R890H	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		AAAGAGTTCCGTTTGAGATCA	0.358000													54	24					0	0	0.00361006	0	0
SAA3P	6290	broad.mit.edu	37	11	18134789	18134789	+	RNA	SNP	T	T	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr11:18134789T>C	ENST00000534768.1	-	0	192					NR_026576.1															lung(2)	2						TTTTTTGTAATTGGCTTCTTT	0.408000													3	14					0	0	6.4e-05	0	0
CHD9	80205	broad.mit.edu	37	16	53191330	53191330	+	Silent	SNP	T	T	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr16:53191330T>C	ENST00000566029.1	+	2	1538	c.1329T>C	c.(1327-1329)caT>caC	p.H443H	CHD9_ENST00000398510.3_Silent_p.H443H|CHD9_ENST00000564845.1_Silent_p.H443H|CHD9_ENST00000447540.1_Silent_p.H443H			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	443					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TTACTTCGCATCTGGTAACAC	0.423000													8	49					0	0	0.000978159	0	0
CCNE2	9134	broad.mit.edu	37	8	95895049	95895049	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr8:95895049C>G	ENST00000520509.1	-	10	1155	c.903G>C	c.(901-903)ttG>ttC	p.L301F	CCNE2_ENST00000308108.4_Missense_Mutation_p.L301F|CCNE2_ENST00000396133.3_Missense_Mutation_p.L301F			O96020	CCNE2_HUMAN	cyclin E2	301					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					TAAAATGGCACAAGGCAGCAG	0.383000													42	197					0	0	0.00285205	0	0
SCN2B	6327	broad.mit.edu	37	11	118047142	118047142	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr11:118047142T>A	ENST00000278947.5	-	1	246	c.5A>T	c.(4-6)cAc>cTc	p.H2L		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	2				H -> Q (in Ref. 1; AAC26013).	synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		GGCATCTCTGTGCATTTTCAG	0.522000													14	87					0	0	0.00244969	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57080491	57080491	+	Silent	SNP	A	A	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr11:57080491A>G	ENST00000532437.1	-	4	1982	c.1671T>C	c.(1669-1671)gaT>gaC	p.D557D	TNKS1BP1_ENST00000358252.3_Silent_p.D557D			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	557	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GACTCTCCCCATCGCCCTTCT	0.592000													12	37					0	0	0.00185496	0	0
ZNF311	282890	broad.mit.edu	37	6	28963438	28963438	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr6:28963438C>A	ENST00000377179.3	-	7	1853	c.1341G>T	c.(1339-1341)caG>caT	p.Q447H	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						CTTTTCCACACTGGGGACACC	0.493000													8	170					5.4927e-09	2.62191e-08	0.000274275	1	0
CSMD3	114788	broad.mit.edu	37	8	114389013	114389013	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr8:114389013C>G	ENST00000343508.3	-	2	182	c.12G>C	c.(10-12)tgG>tgC	p.W4C	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000297405.5_Intron	NM_198124.1	NP_937757.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	43						integral to membrane|plasma membrane				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						AGCAAAGGAACCAACTCCACA	0.537000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			26	151					0	0	0.00127121	0	0
OPLAH	26873	broad.mit.edu	37	8	145111554	145111554	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr8:145111554C>T	ENST00000426825.1	-	13	1892	c.1811G>A	c.(1810-1812)cGt>cAt	p.R604H	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	604							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			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)	GTCCCCCGCACGGGGCGAGCG	0.667000													6	58					0	0	0.00307968	0	0
ZNF835	90485	broad.mit.edu	37	19	57176150	57176150	+	Silent	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr19:57176150C>T	ENST00000537055.2	-	2	648	c.417G>A	c.(415-417)gcG>gcA	p.A139A		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						ACTCGGGGCACGCAAATGGCT	0.632000													38	73					0	0	0.00428921	0	0
PLAU	5328	broad.mit.edu	37	10	75673358	75673358	+	Silent	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr10:75673358G>A	ENST00000446342.1	+	6	953	c.471G>A	c.(469-471)agG>agA	p.R157R	PLAU_ENST00000372762.4_Silent_p.R138R|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Silent_p.R174R|C10orf55_ENST00000409178.1_Intron|C10orf55_ENST00000412307.2_Intron	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	174	Connecting peptide.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	AGACTCTGAGGCCCCGCTTTA	0.532000													41	275					0	0	0.00195071	0	0
MAP4K3	8491	broad.mit.edu	37	2	39514010	39514010	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr2:39514010C>G	ENST00000263881.3	-	21	1894	c.1570G>C	c.(1570-1572)Gaa>Caa	p.E524Q	MAP4K3_ENST00000437545.1_Missense_Mutation_p.E440Q|MAP4K3_ENST00000341681.5_Missense_Mutation_p.E503Q|MAP4K3_ENST00000536018.1_Missense_Mutation_p.E77Q	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	524					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TCTTTCTTTTCTTTTCTTGAA	0.338000													15	54					0	0	0.00316338	0	0
CEP152	22995	broad.mit.edu	37	15	49089914	49089914	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr15:49089914C>T	ENST00000380950.2	-	4	392	c.205G>A	c.(205-207)Gag>Aag	p.E69K	CEP152_ENST00000399334.3_Missense_Mutation_p.E69K|CEP152_ENST00000325747.5_Missense_Mutation_p.E69K	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	69					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCCAATTGCTCAGGATGATGT	0.388000													8	83					0	0	0.000274275	0	0
AGO2	27161	broad.mit.edu	37	8	141559311	141559311	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr8:141559311C>G	ENST00000220592.5	-	12	1602	c.1490G>C	c.(1489-1491)gGg>gCg	p.G497A	AGO2_ENST00000519980.1_Missense_Mutation_p.G497A	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		GCTGTCCGCCCCCTGCGCGTA	0.637000													6	71					0	0	0.00198382	0	0
PRKAR2B	5577	broad.mit.edu	37	7	106797681	106797681	+	Silent	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr7:106797681G>A	ENST00000265717.4	+	10	1294	c.1035G>A	c.(1033-1035)tcG>tcA	p.S345S		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	345					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|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						CTCGATGCTCGCGGGGACAGT	0.458000													38	42					0	0	0.00195071	0	0
GABRA2	2555	broad.mit.edu	37	4	46334683	46334683	+	Silent	SNP	G	G	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr4:46334683G>C	ENST00000510861.1	-	4	377	c.204C>G	c.(202-204)gtC>gtG	p.V68V	GABRA2_ENST00000356504.1_Silent_p.V68V|GABRA2_ENST00000540012.1_Intron|GABRA2_ENST00000381620.4_Silent_p.V68V|GABRA2_ENST00000507069.1_Silent_p.V68V|GABRA2_ENST00000515082.1_Silent_p.V68V|GABRA2_ENST00000514090.1_Silent_p.V68V			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	68					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTTAGTGAAGACTTCAGTAA	0.358000													26	82					0	0	0.00395357	0	0
FBN3	84467	broad.mit.edu	37	19	8130962	8130962	+	Silent	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr19:8130962G>A	ENST00000600128.1	-	64	8685	c.8271C>T	c.(8269-8271)ggC>ggT	p.G2757G	FBN3_ENST00000270509.2_Silent_p.G2757G|FBN3_ENST00000601739.1_Silent_p.G2757G			Q75N90	FBN3_HUMAN	fibrillin 3	2757						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGGAGCTGACGCCACGGAGGT	0.682000													10	100					0	0	0.00185496	0	0
SMARCD3	6604	broad.mit.edu	37	7	150936506	150936506	+	Silent	SNP	G	G	A	rs139287814		TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr7:150936506G>A	ENST00000392811.2	-	13	1809	c.1335C>T	c.(1333-1335)gcC>gcT	p.A445A	SMARCD3_ENST00000356800.2_Silent_p.A445A|SMARCD3_ENST00000262188.8_Silent_p.A458A	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	458					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCGACTGACGGCCTCCTGGG	0.612000													27	48					0	0	0.001512	0	0
UBR1	197131	broad.mit.edu	37	15	43398195	43398195	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr15:43398195G>T	ENST00000290650.4	-	1	104	c.26C>A	c.(25-27)aCt>aAt	p.T9N	UBR1_ENST00000382177.2_Missense_Mutation_p.T9N	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	9					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CATCCTCTCAGTACCTCCAGC	0.612000													10	5					1.58986e-06	7.41532e-06	0.000673444	1	0
VWA5A	4013	broad.mit.edu	37	11	123988563	123988563	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr11:123988563A>C	ENST00000456829.2	+	4	478	c.227A>C	c.(226-228)gAa>gCa	p.E76A	VWA5A_ENST00000392748.1_Missense_Mutation_p.E76A|VWA5A_ENST00000449321.1_Missense_Mutation_p.E76A|VWA5A_ENST00000360334.4_Missense_Mutation_p.E76A|VWA5A_ENST00000361352.5_Missense_Mutation_p.E76A|VWA5A_ENST00000392744.4_Missense_Mutation_p.E92A	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	76	VIT.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						ATTGTAGCAGAATTACAAGAC	0.413000													72	38					0	0	0.00361006	0	0
CSH2	1443	broad.mit.edu	37	17	61950686	61950686	+	Silent	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr17:61950686G>A	ENST00000336844.5	-	2	175	c.24C>T	c.(22-24)tcC>tcT	p.S8S	CSH2_ENST00000392886.2_Silent_p.S8S|CSH2_ENST00000345366.7_Silent_p.S8S|CSH2_ENST00000560142.1_Silent_p.S8S	NM_022644.3	NP_072170.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	8					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						CCAGGAGCAGGGACGTCCGGG	0.607000													27	49					0	0	0.00428921	0	0
MET	4233	broad.mit.edu	37	7	116340099	116340099	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr7:116340099T>C	ENST00000397752.3	+	2	1161	c.961T>C	c.(961-963)Tat>Cat	p.Y321H	MET_ENST00000436117.2_Missense_Mutation_p.Y321H|MET_ENST00000318493.6_Missense_Mutation_p.Y321H	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	321	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TCAGGCTGCGTATGTCAGCAA	0.453000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				3	94					0	0	6.4e-05	0	0
SLC41A3	54946	broad.mit.edu	37	3	125786931	125786931	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr3:125786931C>G	ENST00000360370.4	-	2	175	c.132G>C	c.(130-132)gaG>gaC	p.E44D	SLC41A3_ENST00000508835.1_Intron|SLC41A3_ENST00000346785.5_Missense_Mutation_p.E44D|SLC41A3_ENST00000315891.6_Missense_Mutation_p.E44D|SLC41A3_ENST00000514023.1_5'UTR			Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	44						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CGCTTTGGCTCTCAGGGGCCC	0.627000													9	124					0	0	0.000442599	0	0
STEAP3	55240	broad.mit.edu	37	2	120003328	120003328	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr2:120003328G>C	ENST00000354888.5	+	3	760	c.256G>C	c.(256-258)Gtc>Ctc	p.V86L	STEAP3_ENST00000450943.2_Missense_Mutation_p.V86L|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393107.2_Missense_Mutation_p.V86L|STEAP3_ENST00000393106.2_Missense_Mutation_p.V86L|STEAP3_ENST00000409811.1_Missense_Mutation_p.V86L|STEAP3_ENST00000393108.2_Missense_Mutation_p.V86L|STEAP3_ENST00000393110.2_Missense_Mutation_p.V96L|STEAP3_ENST00000425223.2_Missense_Mutation_p.V86L	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	86					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CTCCCCGGAGGTCATCTTTGT	0.592000													12	28					0	0	0.00136819	0	0
AKR7A2	8574	broad.mit.edu	37	1	19633532	19633532	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr1:19633532A>G	ENST00000235835.3	-	5	773	c.752T>C	c.(751-753)tTc>tCc	p.F251S		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	251					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATTCCCAAAGAAGCGGCCCAC	0.597000													24	173					0	0	0.000720815	0	0
MED13L	23389	broad.mit.edu	37	12	116446313	116446313	+	Silent	SNP	A	A	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr12:116446313A>G	ENST00000281928.3	-	10	2111	c.1905T>C	c.(1903-1905)agT>agC	p.S635S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	635					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GGAGACGATAACTATGCCACC	0.522000													7	34					0	0	0.00198382	0	0
TENM1	10178	broad.mit.edu	37	X	123587298	123587298	+	Silent	SNP	C	C	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chrX:123587298C>A	ENST00000422452.2	-	23	4056	c.3993G>T	c.(3991-3993)ggG>ggT	p.G1331G	TENM1_ENST00000371130.3_Silent_p.G1324G	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GAATCATAGTCCCATCCACAA	0.428000													15	43					2.62699e-14	1.28407e-13	0.00316338	1	0
STK38	11329	broad.mit.edu	37	6	36507865	36507865	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr6:36507865C>A	ENST00000229812.7	-	2	400	c.115G>T	c.(115-117)Gaa>Taa	p.E39*		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	39					intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTCGTTCTTCATGTTGAGCG	0.378000													19	270					1.10513e-12	5.35902e-12	0.00229938	1	0
ASH1L	55870	broad.mit.edu	37	1	155349869	155349869	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr1:155349869G>A	ENST00000368346.3	-	8	6796	c.6157C>T	c.(6157-6159)Cct>Tct	p.P2053S	ASH1L_ENST00000392403.3_Missense_Mutation_p.P2048S			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2053					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)			ATATCATAAGGAAGCTGGAAG	0.368000													30	95					0	0	0.00283554	0	0
TP53	7157	broad.mit.edu	37	17	7579358	7579358	+	Missense_Mutation	SNP	C	C	A	rs11540654		TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr17:7579358C>A	ENST00000420246.2	-	4	461	c.329G>T	c.(328-330)cGt>cTt	p.R110L	TP53_ENST00000413465.2_Missense_Mutation_p.R110L|TP53_ENST00000359597.4_Missense_Mutation_p.R110L|TP53_ENST00000269305.4_Missense_Mutation_p.R110L|TP53_ENST00000445888.2_Missense_Mutation_p.R110L|TP53_ENST00000455263.2_Missense_Mutation_p.R110L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; 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.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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)		GAAGCCCAGACGGAAACCGTA	0.612000		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)			52	17					6.3008e-33	3.15557e-32	0.00361006	1	0
CCDC144A	9720	broad.mit.edu	37	17	16612212	16612212	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr17:16612212G>A	ENST00000443444.2	+	5	981	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	CCDC144A_ENST00000456009.1_Intron|CCDC144A_ENST00000360524.8_Missense_Mutation_p.E281K|CCDC144A_ENST00000399273.1_Missense_Mutation_p.E281K|CCDC144A_ENST00000340621.5_Missense_Mutation_p.E280K|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.E281K			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	281																	AATGTGGATTGAACAAGGCAA	0.358000													30	39					0	0	0.00428921	0	0
ZFP36	7538	broad.mit.edu	37	19	39899162	39899162	+	Silent	SNP	G	G	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr19:39899162G>C	ENST00000597629.1	+	2	896	c.822G>C	c.(820-822)ctG>ctC	p.L274L	ZFP36_ENST00000248673.3_Silent_p.L268L			P26651	TTP_HUMAN	ZFP36 ring finger protein	268					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGGGTGGCCTGGTTCGGACCC	0.677000													6	54					0	0	0.00116845	0	0
PHF21B	112885	broad.mit.edu	37	22	45283868	45283868	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr22:45283868C>T	ENST00000313237.5	-	10	1322	c.1172G>A	c.(1171-1173)tGg>tAg	p.W391*	PHF21B_ENST00000404079.2_Nonsense_Mutation_p.W337*|PHF21B_ENST00000403565.1_Nonsense_Mutation_p.W187*|PHF21B_ENST00000396103.3_Nonsense_Mutation_p.W349*	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	391							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GGGGCACACCCACACGCCCTT	0.697000													5	16					0	0	0.00198382	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977327	29977327	+	RNA	SNP	T	T	C	rs143365191	by1000genomes	TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr6:29977327T>C	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA																							GACAGCTGCCTTGTGTGGGAC	0.438000													4	91					0	0	0.000602214	0	0
OR52E6	390078	broad.mit.edu	37	11	5862730	5862730	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr11:5862730C>T	ENST00000329322.5	-	1	397	c.398G>A	c.(397-399)tGg>tAg	p.W133*	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Nonsense_Mutation_p.W137*	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	133			W -> R (in dbSNP:rs10838719).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGGTGTACCAAAGAGGTTT	0.468000													53	216					0	0	0.00361006	0	0
CPT1C	126129	broad.mit.edu	37	19	50208490	50208490	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr19:50208490G>A	ENST00000392518.4	+	10	1271	c.899G>A	c.(898-900)cGc>cAc	p.R300H	CPT1C_ENST00000354199.5_Missense_Mutation_p.R300H|CPT1C_ENST00000323446.5_Missense_Mutation_p.R300H|CPT1C_ENST00000405931.2_Missense_Mutation_p.R289H|CPT1C_ENST00000598293.1_Missense_Mutation_p.R300H	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	300					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		ATGGGAATGCGCCCCTTATGC	0.587000													17	128					0	0	0.00074312	0	0
CIT	11113	broad.mit.edu	37	12	120306960	120306960	+	Silent	SNP	G	G	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr12:120306960G>T	ENST00000392521.2	-	3	197	c.142C>A	c.(142-144)Cga>Aga	p.R48R	CIT_ENST00000261833.7_Silent_p.R48R	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	48					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ATCCCTTCTCGGGAAAGAGGA	0.433000													6	189					0.00198382	0.00891259	0.00198382	1	0
FAM3C	10447	broad.mit.edu	37	7	120990539	120990539	+	Silent	SNP	T	T	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr7:120990539T>A	ENST00000359943.3	-	10	873	c.660A>T	c.(658-660)ggA>ggT	p.G220G		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	220					multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity			kidney(1)|lung(8)	9	all_neural(327;0.117)					GGGGGATGCATCCTTCCATTT	0.368000													80	88					0	0	0.00361006	0	0
CLEC3A	10143	broad.mit.edu	37	16	78062031	78062031	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr16:78062031T>C	ENST00000299642.4	+	2	255	c.170T>C	c.(169-171)aTt>aCt	p.I57T	CLEC3A_ENST00000575655.1_Missense_Mutation_p.I48T|RP11-281J9.2_ENST00000563114.1_RNA	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	48					skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						AAGACTCAAATTGAAAAGCTC	0.448000													16	80					0	0	0.000566183	0	0
AHNAK	79026	broad.mit.edu	37	11	62288527	62288527	+	Silent	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr11:62288527G>A	ENST00000378024.4	-	5	13636	c.13362C>T	c.(13360-13362)atC>atT	p.I4454I	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4454					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)				TGGGAGCTTTGATGTTCATCT	0.443000													16	232					0	0	0.00400662	0	0
CYP26B1	56603	broad.mit.edu	37	2	72360161	72360161	+	Silent	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr2:72360161G>A	ENST00000001146.2	-	5	1340	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	CYP26B1_ENST00000546307.1_Silent_p.F304F|CYP26B1_ENST00000412253.1_Silent_p.F188F	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	379					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CATCAAGCTCGAAGGTCTGCA	0.662000													11	36					0	0	0.000673444	0	0
KCNC1	3746	broad.mit.edu	37	11	17757771	17757771	+	Silent	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr11:17757771C>T	ENST00000379472.3	+	1	252	c.222C>T	c.(220-222)ggC>ggT	p.G74G	KCNC1_ENST00000265969.6_Silent_p.G74G	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	74						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						ACCGCACGGGCAAGCTGCACT	0.652000													5	75					0	0	0.000602214	0	0
ENTHD1	150350	broad.mit.edu	37	22	40217072	40217072	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr22:40217072G>T	ENST00000325157.6	-	5	1008	c.758C>A	c.(757-759)gCa>gAa	p.A253E		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	253										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					AGGAGGTGTTGCTAGTAAAGG	0.393000													19	50					1.87028e-06	8.65714e-06	0.00188189	1	0
SLC26A4	5172	broad.mit.edu	37	7	107335138	107335138	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr7:107335138T>C	ENST00000265715.3	+	12	1638	c.1414T>C	c.(1414-1416)Tgg>Cgg	p.W472R	SLC26A4_ENST00000544569.1_Missense_Mutation_p.W59R|SLC26A4_ENST00000543100.1_Missense_Mutation_p.W41R|SLC26A4_ENST00000541474.1_Missense_Mutation_p.W33R|SLC26A4_ENST00000480841.1_3'UTR	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	472					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCCTCGTCTGTGGAGACAGAA	0.428000									Pendred syndrome				5	102					0	0	0.00198382	0	0
DNAI2	64446	broad.mit.edu	37	17	72287186	72287186	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr17:72287186T>A	ENST00000579490.1	+	5	944	c.809T>A	c.(808-810)cTg>cAg	p.L270Q	DNAI2_ENST00000311014.6_Missense_Mutation_p.L213Q|DNAI2_ENST00000307504.5_Missense_Mutation_p.L70Q|DNAI2_ENST00000582036.1_Missense_Mutation_p.L213Q|DNAI2_ENST00000446837.2_Missense_Mutation_p.L213Q			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	213					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GAACTTGCTCTGAAGCCATCG	0.498000									Kartagener syndrome				88	465					0	0	0.00361006	0	0
FAM71A	149647	broad.mit.edu	37	1	212798521	212798521	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr1:212798521A>C	ENST00000294829.3	+	1	733	c.302A>C	c.(301-303)cAt>cCt	p.H101P	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	101										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TATGCTGGACATGGCCAGGCC	0.557000													32	82					0	0	0.00178596	0	0
CA2	760	broad.mit.edu	37	8	86392932	86392932	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr8:86392932G>T	ENST00000285379.5	+	7	927	c.697G>T	c.(697-699)Gag>Tag	p.E233*		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	233					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CTTCAATGGGGAGGGTGAACC	0.393000													28	119					1.17739e-12	5.66447e-12	0.000878237	1	0
OR4K5	79317	broad.mit.edu	37	14	20389038	20389038	+	Silent	SNP	C	C	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr14:20389038C>G	ENST00000315915.4	+	1	298	c.273C>G	c.(271-273)acC>acG	p.T91T		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CACACGAGACCATATCTTTCA	0.418000													29	580					0	0	0.001512	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261822	39261822	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr17:39261822A>C	ENST00000391415.1	+	1	239	c.182A>C	c.(181-183)cAa>cCa	p.Q61P		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	61	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						GTGTGCTGCCAACCCACTTGT	0.647000													4	118					0	0	0.00024832	0	0
SCRT2	85508	broad.mit.edu	37	20	644541	644541	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr20:644541G>T	ENST00000246104.6	-	2	1275	c.698C>A	c.(697-699)tCg>tAg	p.S233*	RP5-850E9.3_ENST00000488788.2_Intron	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN	scratch family zinc finger 2	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|liver(1)|ovary(1)	3						GCCGGTGTGCGAGCGCATGTG	0.692000													20	9					7.41877e-09	3.51385e-08	0.00188189	1	0
PVRL3	25945	broad.mit.edu	37	3	110845158	110845158	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr3:110845158G>C	ENST00000485303.1	+	5	1320	c.1045G>C	c.(1045-1047)Gac>Cac	p.D349H	PVRL3_ENST00000319792.3_Missense_Mutation_p.D349H|PVRL3_ENST00000493615.1_Missense_Mutation_p.D326H	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	349	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TCAAAGAAGTGACCAAAAAGT	0.318000													10	48					0	0	0.000978159	0	0
SUPT6H	6830	broad.mit.edu	37	17	27016420	27016420	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr17:27016420G>C	ENST00000314616.6	+	25	3466	c.3183G>C	c.(3181-3183)gaG>gaC	p.E1061D	SUPT6H_ENST00000347486.4_Missense_Mutation_p.E1061D	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1061					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCCACCCTGAGACTTATGAGT	0.473000													23	71					0	0	0.00332997	0	0
AIMP2	7965	broad.mit.edu	37	7	6063250	6063250	+	Silent	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr7:6063250C>T	ENST00000223029.3	+	4	1010	c.891C>T	c.(889-891)gcC>gcT	p.A297A	AIMP2_ENST00000395236.2_Silent_p.A228A|AIMP2_ENST00000400479.2_Silent_p.A219A|EIF2AK1_ENST00000199389.6_3'UTR	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	297	GST C-terminal.				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CAGTGCCAGCCAATGTGCAGA	0.522000													33	83					0	0	0.00327116	0	0
SMG1	23049	broad.mit.edu	37	16	18896929	18896929	+	Silent	SNP	A	A	G	rs140363576	by1000genomes	TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr16:18896929A>G	ENST00000446231.2	-	7	1294	c.882T>C	c.(880-882)tgT>tgC	p.C294C	SMG1_ENST00000389467.3_Silent_p.C294C|SMG1_ENST00000565224.1_Silent_p.C268C			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	294	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TAACACATTTACAAAGCAATT	0.373000													3	117					0	0	0.00024832	0	0
INTU	27152	broad.mit.edu	37	4	128565010	128565010	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr4:128565010G>T	ENST00000335251.5	+	2	584	c.481G>T	c.(481-483)Gtg>Ttg	p.V161L	INTU_ENST00000296461.5_Missense_Mutation_p.V161L	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	161										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						ATACAAAGATGTGAATGTTTA	0.393000													49	42					9.52127e-25	4.72967e-24	0.00361006	1	0
OR4D6	219983	broad.mit.edu	37	11	59225216	59225216	+	Silent	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr11:59225216C>T	ENST00000300127.2	+	1	806	c.783C>T	c.(781-783)ccC>ccT	p.P261P		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						ACTGCCGGCCCTTCATGACGC	0.527000													47	97					0	0	0.00361006	0	0
DEPDC5	9681	broad.mit.edu	37	22	32234733	32234733	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr22:32234733G>A	ENST00000400246.1	+	27	2559	c.2417G>A	c.(2416-2418)cGt>cAt	p.R806H	DEPDC5_ENST00000266091.3_Missense_Mutation_p.R806H|DEPDC5_ENST00000400248.1_Missense_Mutation_p.R797H|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R797H|DEPDC5_ENST00000382105.2_Missense_Mutation_p.R728H|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R806H|DEPDC5_ENST00000382112.3_Missense_Mutation_p.R797H|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R728H			O75140	DEPD5_HUMAN	DEP domain containing 5	797					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATTTGCCAACGTCTCATGCAG	0.517000													15	539					0	0	0.00400662	0	0
FDCSP	260436	broad.mit.edu	37	4	71099895	71099895	+	Silent	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr4:71099895C>T	ENST00000317987.5	+	4	361	c.249C>T	c.(247-249)agC>agT	p.S83S		NM_152997.3	NP_694542.1	Q8NFU4	FDSCP_HUMAN	follicular dendritic cell secreted protein	83						extracellular region											CCCTTCCTAGCGAAAAGTAAA	0.373000													16	42					0	0	0.00316338	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102296140	102296140	+	RNA	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr15:102296140C>T	ENST00000561463.1	+	0	4186																											GTCCAACCTGCACTCGCGTGG	0.602000													7	5					0	0	0.000274275	0	0
AGBL1	123624	broad.mit.edu	37	15	86687016	86687016	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr15:86687016C>T	ENST00000441037.2	+	2	159	c.64C>T	c.(64-66)Cct>Tct	p.P22S	AGBL1_ENST00000421325.2_Missense_Mutation_p.P22S	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	22					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GAGGACAGCTCCTCCAGACTA	0.547000													20	49					0	0	0.00121646	0	0
DOCK2	1794	broad.mit.edu	37	5	169472907	169472907	+	Silent	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr5:169472907C>T	ENST00000256935.8	+	39	4044	c.3964C>T	c.(3964-3966)Ctg>Ttg	p.L1322L	DOCK2_ENST00000540750.1_Silent_p.L383L|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.L814L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1322	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCCAGAACCTGGTAAGGCA	0.592000													4	89					0	0	0.000602214	0	0
OR12D2	26529	broad.mit.edu	37	6	29365367	29365367	+	Silent	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr6:29365367G>A	ENST00000383555.2	+	1	952	c.891G>A	c.(889-891)aaG>aaA	p.K297K	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						AGGAAGTGAAGGGGGCCTTGG	0.433000													5	124					0	0	0.00116845	0	0
KCNH8	131096	broad.mit.edu	37	3	19436748	19436748	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr3:19436748G>C	ENST00000328405.2	+	7	1388	c.1122G>C	c.(1120-1122)tgG>tgC	p.W374C	KCNH8_ENST00000475063.1_3'UTR|KCNH8_ENST00000537696.1_Missense_Mutation_p.W15C	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	374						integral to membrane	two-component sensor activity	p.W374C(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CGTGTATCTGGTACGTCATTG	0.433000													39	63					0	0	0.0025221	0	0
GH1	2688	broad.mit.edu	37	17	61994726	61994726	+	Silent	SNP	G	G	A	rs142704768	byFrequency	TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr17:61994726G>A	ENST00000323322.5	-	5	639	c.597C>T	c.(595-597)gtC>gtT	p.V199V	GH1_ENST00000342364.4_Silent_p.V104V|GH1_ENST00000458650.2_Silent_p.V184V|GH1_ENST00000351388.4_Silent_p.V159V|CSHL1_ENST00000392824.4_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	199					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GGAATGTCTCGACCTTGTCCA	0.582000													16	53					0	0	0.000566183	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77220764	77220764	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr12:77220764T>C	ENST00000426126.2	+	9	1623	c.974T>C	c.(973-975)aTt>aCt	p.I325T	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.I325T	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	325					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						GACCTAAATATTGATTCTTGG	0.338000													5	116					0	0	0.00116845	0	0
FAM135B	51059	broad.mit.edu	37	8	139189617	139189617	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr8:139189617A>C	ENST00000395297.1	-	11	1246	c.1076T>G	c.(1075-1077)cTt>cGt	p.L359R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	359								p.L359P(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGGACTGCAAGTTTTTGGTG	0.418000										HNSCC(54;0.14)			4	76					0	0	0.00024832	0	0
NUDT17	200035	broad.mit.edu	37	1	145586632	145586632	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr1:145586632C>A	ENST00000334513.5	-	8	955	c.944G>T	c.(943-945)tGg>tTg	p.W315L		NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	315							hydrolase activity|metal ion binding			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTCCATGTTCCATTCTTCCTT	0.517000													9	113					7.48243e-07	3.51674e-06	0.000442599	1	0
CD81-AS1	101927682	broad.mit.edu	37	11	2356865	2356865	+	RNA	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr11:2356865G>A	ENST00000413483.1	-	0	407				RPL26P30_ENST00000602923.1_RNA																							TACTTCTGCCGCAGCTCCTTG	0.542000													7	153					0	0	0.00198382	0	0
TRUB1	142940	broad.mit.edu	37	10	116698112	116698112	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr10:116698112A>C	ENST00000298746.3	+	1	161	c.100A>C	c.(100-102)Acc>Ccc	p.T34P		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	34					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	p.T34P(1)		breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		AATGGCTGCGACCCCGTCAGC	0.637000													6	6					0	0	0.000442599	0	0
SHPRH	257218	broad.mit.edu	37	6	146262927	146262927	+	Silent	SNP	T	T	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr6:146262927T>C	ENST00000367503.3	-	10	2720	c.2322A>G	c.(2320-2322)gtA>gtG	p.V774V	SHPRH_ENST00000275233.7_Silent_p.V774V|SHPRH_ENST00000367505.2_Silent_p.V774V|SHPRH_ENST00000438092.2_Silent_p.V774V	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	774	Helicase ATP-binding; second part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTGAACGCAGTACATCATAGG	0.413000													46	46					0	0	0.00321405	0	0
RSPH1	89765	broad.mit.edu	37	21	43896056	43896056	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr21:43896056C>A	ENST00000291536.3	-	8	996	c.829G>T	c.(829-831)Gag>Tag	p.E277*	RSPH1_ENST00000398352.3_Nonsense_Mutation_p.E239*	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	277					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						TCCCGGCTCTCTTCCCGGAGG	0.642000													11	100					6.40141e-05	0.000291885	0.000978159	1	0
ACSM1	116285	broad.mit.edu	37	16	20702350	20702350	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr16:20702350T>A	ENST00000307493.4	-	1	228	c.161A>T	c.(160-162)tAt>tTt	p.Y54F	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.Y54F	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	54					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GTCCAGTACATAACTTGCAAA	0.478000													14	116					0	0	0.00244969	0	0
LRRC27	80313	broad.mit.edu	37	10	134179056	134179056	+	Splice_Site	SNP	T	T	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr10:134179056T>G	ENST00000392638.2	+	11	1706		c.e11+2		LRRC27_ENST00000368613.4_Splice_Site|LRRC27_ENST00000368610.3_Splice_Site|LRRC27_ENST00000475747.1_Splice_Site|LRRC27_ENST00000368614.3_Splice_Site|LRRC27_ENST00000432555.2_Splice_Site|LRRC27_ENST00000368612.1_Splice_Site			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CTGGAAATTGTAAGGATTTCT	0.438000													6	48					0	0	0.00116845	0	0
WWC3	55841	broad.mit.edu	37	X	10062261	10062261	+	Silent	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chrX:10062261C>T	ENST00000380861.4	+	7	988	c.597C>T	c.(595-597)ggC>ggT	p.G199G	WWC3_ENST00000454666.1_Silent_p.G199G	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	199										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GCGTGCCTGGCGATGCTGGTG	0.592000													7	107					0	0	0.00307968	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													6	127					0	0	0.00116845	0	0
MALAT1	378938	broad.mit.edu	37	11	65272326	65272326	+	RNA	SNP	A	A	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr11:65272326A>C	ENST00000534336.1	+	0	7094					NR_002819.2																						GAAGGGCCAGAGAAGCCAGAC	0.418000													10	39					0	0	0.000673444	0	0
CLEC1A	51267	broad.mit.edu	37	12	10233993	10233993	+	Silent	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr12:10233993G>A	ENST00000315330.4	-	3	296	c.234C>T	c.(232-234)ctC>ctT	p.L78L	CLEC1A_ENST00000457018.2_Silent_p.L45L|CLEC1A_ENST00000420265.2_Intron	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	78					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						CAGTATTGGAGAGCTGGTAGT	0.383000													9	48					0	0	0.000442599	0	0
CRYBA4	1413	broad.mit.edu	37	22	27021529	27021529	+	Silent	SNP	C	C	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr22:27021529C>A	ENST00000354760.3	+	4	278	c.243C>A	c.(241-243)ggC>ggA	p.G81G	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	81	Beta/gamma crystallin 'Greek key' 2.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						ATGCCTGGGGCGGCAACACGG	0.632000													8	288					0.000157383	0.000712305	0.00307968	1	0
SETBP1	26040	broad.mit.edu	37	18	42531615	42531615	+	Silent	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr18:42531615G>A	ENST00000282030.5	+	4	2606	c.2310G>A	c.(2308-2310)gcG>gcA	p.A770A		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	770						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CACTTGTGGCGTCTTCACCAG	0.527000									Schinzel-Giedion syndrome				17	53					0	0	0.00400662	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153905608	153905608	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr3:153905608G>A	ENST00000356448.4	+	7	1906	c.1622G>A	c.(1621-1623)cGa>cAa	p.R541Q	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.R541Q	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	541	DH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						TACCAACAACGAACACTACAA	0.323000													10	9					0	0	0.000978159	0	0
SOHLH2	54937	broad.mit.edu	37	13	36748974	36748974	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr13:36748974C>G	ENST00000379881.3	-	7	762	c.674G>C	c.(673-675)cGt>cCt	p.R225P	SOHLH2_ENST00000554962.1_Missense_Mutation_p.R302P|CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.R302P	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2									p.R225H(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CAAGAGAGTACGCAGCTGCTC	0.393000													3	54					0	0	6.4e-05	0	0
HTR3D	200909	broad.mit.edu	37	3	183756208	183756208	+	Missense_Mutation	SNP	G	G	A	rs113942045		TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr3:183756208G>A	ENST00000382489.3	+	7	931	c.931G>A	c.(931-933)Gcc>Acc	p.A311T	HTR3D_ENST00000334128.2_Missense_Mutation_p.A136T|HTR3D_ENST00000453435.1_Missense_Mutation_p.A90T|HTR3D_ENST00000428798.2_Missense_Mutation_p.A261T	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	311						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGTCTACTTCGCCCTGTGCCT	0.592000													34	38					0	0	0.00283554	0	0
KANK4	163782	broad.mit.edu	37	1	62740052	62740052	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr1:62740052G>T	ENST00000371153.4	-	3	1102	c.724C>A	c.(724-726)Cca>Aca	p.P242T	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	242	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						AGGTGATTTGGAACCTTCACC	0.542000													17	49					1.45105e-14	7.14994e-14	0.00074312	1	0
RYR2	6262	broad.mit.edu	37	1	237947335	237947335	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr1:237947335A>G	ENST00000366574.2	+	90	12640	c.12323A>G	c.(12322-12324)cAc>cGc	p.H4108R	RYR2_ENST00000542537.1_Missense_Mutation_p.H4092R|RYR2_ENST00000360064.6_Missense_Mutation_p.H4114R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4108					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTCTCTGAGCACATGCCCAAC	0.512000													9	63					0	0	0.000442599	0	0
MBD2	8932	broad.mit.edu	37	18	51715381	51715381	+	Splice_Site	SNP	C	C	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr18:51715381C>G	ENST00000256429.3	-	3	931	c.702_splice	c.e3-1	p.G235_splice		NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	235					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	TCTGGTTTACCCTGTGaatat	0.269000													6	112					0	0	0.00116845	0	0
WDPCP	51057	broad.mit.edu	37	2	63712095	63712095	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr2:63712095T>C	ENST00000409562.3	-	5	526	c.280A>G	c.(280-282)Aac>Gac	p.N94D	WDPCP_ENST00000272321.7_Missense_Mutation_p.N94D|WDPCP_ENST00000409835.1_5'UTR			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	94					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						GGGCGTCTGTTTTTGAGCGTC	0.363000													5	82					0	0	0.00116845	0	0
GRHL3	57822	broad.mit.edu	37	1	24668675	24668675	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr1:24668675A>G	ENST00000361548.4	+	9	1348	c.1118A>G	c.(1117-1119)aAc>aGc	p.N373S	GRHL3_ENST00000356046.2_Missense_Mutation_p.N327S|GRHL3_ENST00000236255.4_Missense_Mutation_p.N378S|GRHL3_ENST00000350501.5_Missense_Mutation_p.N373S|GRHL3_ENST00000342072.4_Missense_Mutation_p.N280S	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	373					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GTCCCCCTGAACCTGCAGATT	0.562000													14	154					0	0	0.00316338	0	0
NPC1L1	29881	broad.mit.edu	37	7	44553240	44553240	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr7:44553240C>T	ENST00000289547.4	-	20	3941	c.3886G>A	c.(3886-3888)Gtt>Att	p.V1296I	NPC1L1_ENST00000381160.3_Missense_Mutation_p.V1269I|NPC1L1_ENST00000546276.1_Missense_Mutation_p.V1223I	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1296					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCCGGGTTAACGTCAGGCCCT	0.612000													46	53					0	0	0.00361006	0	0
CD1B	910	broad.mit.edu	37	1	158299774	158299774	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr1:158299774C>G	ENST00000368168.3	-	3	582	c.475G>C	c.(475-477)Gca>Cca	p.A159P		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	159					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AATTTCTGTGCCCTGCTGCCA	0.483000													4	260					0	0	0.000602214	0	0
MYH4	4622	broad.mit.edu	37	17	10366250	10366250	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr17:10366250C>T	ENST00000255381.2	-	11	1050	c.940G>A	c.(940-942)Gca>Aca	p.A314T	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	314	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTGACAAATGCGAAGTCATAT	0.403000													22	41					0	0	0.000720815	0	0
UNC13A	23025	broad.mit.edu	37	19	17756535	17756535	+	Silent	SNP	C	C	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr19:17756535C>G	ENST00000428389.2	-	20	2567	c.2568G>C	c.(2566-2568)acG>acC	p.T856T	UNC13A_ENST00000552293.1_Silent_p.T768T|UNC13A_ENST00000551649.1_Silent_p.T768T|UNC13A_ENST00000550896.1_Silent_p.T766T|UNC13A_ENST00000519716.2_Silent_p.T768T|UNC13A_ENST00000252773.7_Silent_p.T768T			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	768					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CCTCAATGATCGTCTGCCCCA	0.597000													5	52					0	0	0.00116845	0	0
MAT1A	4143	broad.mit.edu	37	10	82049168	82049168	+	Silent	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr10:82049168C>T	ENST00000372213.3	-	1	272	c.12G>A	c.(10-12)ccG>ccA	p.P4P		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	4					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AGCCATCCACCGGTCCATTCA	0.468000													31	70					0	0	0.00209593	0	0
LAMB3	3914	broad.mit.edu	37	1	209807939	209807939	+	Silent	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr1:209807939G>A	ENST00000391911.1	-	5	806	c.417C>T	c.(415-417)ttC>ttT	p.F139F	LAMB3_ENST00000356082.4_Silent_p.F139F|LAMB3_ENST00000367030.3_Silent_p.F139F	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	139	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGGTCTTACCGAAGTCTGAGG	0.667000													7	30					0	0	0.00198382	0	0
NUDT17	200035	broad.mit.edu	37	1	145586633	145586633	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr1:145586633A>T	ENST00000334513.5	-	8	954	c.943T>A	c.(943-945)Tgg>Agg	p.W315R		NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	315							hydrolase activity|metal ion binding			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCATGTTCCATTCTTCCTTT	0.522000													8	112					0	0	0.000274275	0	0
ULK4	54986	broad.mit.edu	37	3	41795941	41795941	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr3:41795941A>C	ENST00000301831.4	-	22	2695	c.2233T>G	c.(2233-2235)Tca>Gca	p.S745A		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	745							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		ATGCATGTTGAGGGGCTGTCA	0.368000													7	82					0	0	0.00307968	0	0
C8orf34	116328	broad.mit.edu	37	8	69434041	69434041	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr8:69434041T>G	ENST00000337103.4	+	5	2032	c.440T>G	c.(439-441)gTg>gGg	p.V147G	C8orf34_ENST00000539993.1_Missense_Mutation_p.V172G|C8orf34_ENST00000518698.1_Missense_Mutation_p.V258G|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000348340.2_Missense_Mutation_p.V172G			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	172					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CAGGAAACAGTGACATTTAAT	0.398000													8	13					0	0	0.00307968	0	0
C8orf47	203111	broad.mit.edu	37	8	99101611	99101611	+	Silent	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr8:99101611G>A	ENST00000318528.3	+	2	725	c.366G>A	c.(364-366)gaG>gaA	p.E122E	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	chromosome 8 open reading frame 47	122										kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GTGGCAAAGAGGATGCCCCAG	0.557000													11	147					0	0	0.000978159	0	0
SPSB3	90864	broad.mit.edu	37	16	1828259	1828259	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr16:1828259C>T	ENST00000566339.1	-	4	698	c.368G>A	c.(367-369)cGt>cAt	p.R123H	SPSB3_ENST00000301717.4_Missense_Mutation_p.R123H	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	123	B30.2/SPRY.				intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						GCTGACCTTACGGTTGTCACA	0.597000													6	32					0	0	0.00198382	0	0
EPHA10	284656	broad.mit.edu	37	1	38227383	38227383	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr1:38227383G>A	ENST00000373048.4	-	3	543	c.544C>T	c.(544-546)Ccg>Tcg	p.P182S	EPHA10_ENST00000319637.6_Missense_Mutation_p.P182S|EPHA10_ENST00000427468.2_Missense_Mutation_p.P182S	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	182						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGGCTGAGCGGTCCGATCTCG	0.657000													42	38					0	0	0.00361006	0	0
RP1L1	94137	broad.mit.edu	37	8	10468680	10468680	+	Silent	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr8:10468680C>T	ENST00000382483.3	-	4	3151	c.2928G>A	c.(2926-2928)gcG>gcA	p.A976A		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	976					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGGTCTCGTCCGCCAACTCAT	0.632000													27	12					0	0	0.00106085	0	0
EPHB4	2050	broad.mit.edu	37	7	100403236	100403236	+	Silent	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr7:100403236G>A	ENST00000358173.3	-	15	3033	c.2565C>T	c.(2563-2565)gaC>gaT	p.D855D	EPHB4_ENST00000360620.3_Silent_p.D855D	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	855	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCTGCCAACAGTCCAGCATGA	0.632000													9	219					0	0	0.000442599	0	0
CHIA	27159	broad.mit.edu	37	1	111857983	111857983	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr1:111857983G>T	ENST00000369740.1	+	6	509	c.406G>T	c.(406-408)Gac>Tac	p.D136Y	CHIA_ENST00000353665.6_Intron|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000430615.1_Missense_Mutation_p.D28Y|CHIA_ENST00000343320.6_Missense_Mutation_p.D136Y	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	136					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		TGACGGGCTGGACTTTGACTG	0.542000													69	83					4.46356e-37	2.25391e-36	0.00361006	1	0
OR8H3	390152	broad.mit.edu	37	11	55890553	55890553	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr11:55890553G>C	ENST00000313472.3	+	1	705	c.705G>C	c.(703-705)caG>caC	p.Q235H		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CAGGAAAGCAGAAAGCTTTCT	0.413000													38	112					0	0	0.00111076	0	0
NODAL	4838	broad.mit.edu	37	10	72195117	72195117	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr10:72195117G>A	ENST00000420338.2	+	1	533	c.64G>A	c.(64-66)Gtt>Att	p.V22I	NODAL_ENST00000287139.3_Silent_p.N272N																							AGCGATAGGCGTTGTACTGCT	0.557000													27	13					0	0	0.000878237	0	0
DIS3	22894	broad.mit.edu	37	13	73355908	73355908	+	Silent	SNP	G	G	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr13:73355908G>C	ENST00000377767.4	-	1	163	c.63C>G	c.(61-63)cgC>cgG	p.R21R	DIS3_ENST00000475871.1_5'UTR|DIS3_ENST00000377780.4_Silent_p.R21R|DIS3_ENST00000545453.1_5'UTR	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	21					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		GGTAGTGCTCGCGCACGATCT	0.677000										Multiple Myeloma(4;0.011)			13	10					0	0	0.00185496	0	0
SLIT2	9353	broad.mit.edu	37	4	20530615	20530615	+	Silent	SNP	G	G	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr4:20530615G>A	ENST00000504154.1	+	16	1758	c.1506G>A	c.(1504-1506)gcG>gcA	p.A502A	SLIT2_ENST00000273739.5_Silent_p.A506A|SLIT2_ENST00000503823.1_Silent_p.A494A|SLIT2_ENST00000503837.1_Silent_p.A498A	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	502	LRRNT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACTGCTTTGCGGATCTGGCTT	0.393000													5	141					0	0	0.000602214	0	0
KALRN	8997	broad.mit.edu	37	3	123983428	123983428	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr3:123983428C>T	ENST00000360013.3	+	4	468	c.341C>T	c.(340-342)aCg>aTg	p.T114M	KALRN_ENST00000460856.1_Missense_Mutation_p.T114M|KALRN_ENST00000240874.3_Missense_Mutation_p.T114M	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	114	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTCCTCAAAACGCTGCAGGAA	0.537000													25	24					0	0	0.00395357	0	0
POMC	5443	broad.mit.edu	37	2	25384456	25384457	+	In_Frame_Ins	INS	-	-	GCCGCTGCT	rs10654394	byFrequency	TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr2:25384456_25384457insGCCGCTGCT	ENST00000405623.1	-	3	752_753	c.297_298insAGCAGCGGC	c.(295-300)ggcagg>ggAGCAGCGGCcagg	p.99_100GR>GAAAR	POMC_ENST00000395826.2_In_Frame_Ins_p.99_100GR>GAAAR|POMC_ENST00000380794.1_In_Frame_Ins_p.99_100GR>GAAAR|POMC_ENST00000264708.3_In_Frame_Ins_p.99_100GR>GAAAR			P01189	COLI_HUMAN	proopiomelanocortin	99			Missing.		cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	TTCTGCCCTGCgccgctgctgc	0.728													3	3	---	---	---	---					
LPP	4026	broad.mit.edu	37	3	188124020	188124024	+	Frame_Shift_Del	DEL	ACACA	ACACA	-	rs149742671	byFrequency	TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr3:188124020_188124024delACACA	ENST00000312675.4	+	3	358_362	c.112_116delACACA	c.(112-117)afs	p.TQ38fs	LPP_ENST00000543006.1_Frame_Shift_Del_p.TQ38fs|LPP_ENST00000448637.1_Frame_Shift_Del_p.TQ38fs	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	38					cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TTCAGTGTCTACACAACAGCCACCC	0.527			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								28	151	---	---	---	---					
CHD7	55636	broad.mit.edu	37	8	61714143	61714143	+	Frame_Shift_Del	DEL	A	A	-			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr8:61714143delA	ENST00000423902.2	+	6	2912	c.2433delA	c.(2431-2433)gtfs	p.V811fs	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Frame_Shift_Del_p.V811fs	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	811	Chromo 1.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GTCGTTCAGTAAAAAAGCAGG	0.358													2	4	---	---	---	---					
TBC1D31	93594	broad.mit.edu	37	8	124140520	124140521	+	Splice_Site	INS	-	-	T			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr8:124140520_124140521insT	ENST00000287380.1	+	14	1974_1975		c.e14-1		TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000327098.5_Splice_Site|TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000518805.1_Intron	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		TTTTCTTACAGTTTTTTTTTCA	0.322													7	145	---	---	---	---					
COQ4	51117	broad.mit.edu	37	9	131094439	131094439	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr9:131094439delC	ENST00000300452.3	+	5	733	c.410delC	c.(409-411)tcfs	p.S137fs	COQ4_ENST00000461102.1_3'UTR	NM_016035.3	NP_057119.2	Q9Y3A0	COQ4_HUMAN	coenzyme Q4	137					ubiquinone biosynthetic process	mitochondrial inner membrane				endometrium(4)|large_intestine(1)|lung(4)	9						CAGAGGGTCTCCCCAGACACC	0.587													2	4	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	48916758	48916758	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr13:48916758delG	ENST00000267163.4	+	3	426	c.288delG	c.(286-288)aafs	p.K96fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	96					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(5)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAAAGAAAAAGGAACTGTGGG	0.313		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			161	22	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25299375	25299376	+	RNA	INS	-	-	A			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr15:25299375_25299376insA	ENST00000549804.2	+	0	98				SNORD116-2_ENST00000384274.1_RNA|SNHG14_ENST00000547292.1_RNA																							GATGAGTCCCCAAAAAAAACAT	0.495													7	156	---	---	---	---					
ATAD5	79915	broad.mit.edu	37	17	29162473	29162474	+	Frame_Shift_Ins	INS	-	-	C			TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr17:29162473_29162474insC	ENST00000321990.4	+	2	1752_1753	c.1374_1375insC	c.(1372-1377)aagcaafs	p.KQ458fs	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	458					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TTTCAAAAAATGGCAATTTACA	0.302													30	76	---	---	---	---					
KCNG2	26251	broad.mit.edu	37	18	77623691	77623692	+	In_Frame_Ins	INS	-	-	GGC	rs71338073		TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr18:77623691_77623692insGGC	ENST00000316249.3	+	1	24_25	c.24_25insGGC	c.(22-27)ccgcgg>ccGGCgcgg	p.8_9PR>PAR		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	8					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.P8_G9insG(2)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCTccccgggcggcggcgg	0.772													5	1	---	---	---	---					
MYH9	4627	broad.mit.edu	37	22	36708256	36708257	+	Frame_Shift_Ins	INS	-	-	G	rs145517108	byFrequency	TCGA-91-6847-01A-11D-1945-08	TCGA-91-6847-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020fab36-c7de-4933-b2bf-dc7b019a1326	b9542378-b8c6-4c0a-a0db-456396a45554	g.chr22:36708256_36708257insG	ENST00000216181.5	-	14	1795_1796	c.1565_1566insC	c.(1564-1566)cggfs	p.R522fs		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	522	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCAGAATGCCCGGGGGGCCTGC	0.639			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				14	199	---	---	---	---					
