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
NHLRC1	378884	broad.mit.edu	37	6	18122805	18122805	+	Silent	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:18122805C>G	ENST00000340650.3	-	1	46	c.33G>C	c.(31-33)gcG>gcC	p.A11A		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	11					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			GCTCATGCAGCGCTGGCCCGC	0.701000													9	30					0	0	1	0	0
AMDHD1	144193	broad.mit.edu	37	12	96354204	96354204	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:96354204G>A	ENST00000266736.2	+	5	722	c.616G>A	c.(616-618)Gac>Aac	p.D206N		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	206					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding	p.D206Y(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						AGCTGCTGATGACATCATCAA	0.408000													20	41					0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6302489	6302489	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:6302489C>T	ENST00000226760.1	+	8	1137	c.967C>T	c.(967-969)Cac>Tac	p.H323Y	WFS1_ENST00000503569.1_Missense_Mutation_p.H323Y	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	323					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CCCCACGCACCACATCAACGC	0.547000													26	101					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66461659	66461659	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:66461659T>C	ENST00000533211.1	-	22	4785	c.4454A>G	c.(4453-4455)cAg>cGg	p.Q1485R	SPTBN2_ENST00000529997.1_Missense_Mutation_p.Q1485R|SPTBN2_ENST00000309996.2_Missense_Mutation_p.Q1485R			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1485					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCGAGAAGCCTGCAGGCGCCG	0.647000											OREG0021113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	48					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132512742	132512742	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:132512742G>A	ENST00000333577.4	+	28	5507	c.5398G>A	c.(5398-5400)Gcg>Acg	p.A1800T	EP400_ENST00000332482.4_Missense_Mutation_p.A1727T|EP400_ENST00000389562.2_Missense_Mutation_p.A1763T|EP400_ENST00000389561.2_Missense_Mutation_p.A1764T|EP400_ENST00000330386.6_Missense_Mutation_p.A1683T			Q96L91	EP400_HUMAN	E1A binding protein p400	1800					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGCCGGGCCAGCGCACAGTTA	0.557000													31	118					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135721003	135721003	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:135721003T>A	ENST00000264977.3	+	2	1280	c.663T>A	c.(661-663)gaT>gaA	p.D221E	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	221					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATAAAATAGATAATTTTTCTT	0.333000													19	78					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459818	107459818	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:107459818G>A	ENST00000409382.3	-	2	1226	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R206W|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R206W	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	206					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TTCCAGAGCCGGTACAGGAAG	0.617000													12	51					0	0	1	0	0
TPSB2	64499	broad.mit.edu	37	16	1279736	1279736	+	RNA	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:1279736G>T	ENST00000430512.2	-	0	115				TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000339687.6_RNA	NM_024164.5	NP_077078.5	P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)						proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				GCCTGGCCTGGGGCTGGGGCA	0.711000													8	26					0.000157383	0.000166221	1	1	0
SERPINA9	327657	broad.mit.edu	37	14	94935973	94935973	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:94935973A>T	ENST00000337425.5	-	2	333	c.259T>A	c.(259-261)Ttc>Atc	p.F87I	SERPINA9_ENST00000380365.3_Missense_Mutation_p.F69I|SERPINA9_ENST00000298845.7_Missense_Mutation_p.F87I|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000546329.1_Missense_Mutation_p.F51I|SERPINA9_ENST00000448305.2_5'UTR	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	69					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GGGGAGAAGAAGATGTTCTGA	0.577000													19	82					0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95171962	95171962	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:95171962A>G	ENST00000354268.4	+	8	940	c.867A>G	c.(865-867)ctA>ctG	p.L289L	SMARCAD1_ENST00000457823.2_Silent_p.L289L			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	289	CUE 2.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TAGAATCTCTAAAAGTGTTTG	0.289000													13	62					0	0	1	0	0
FASLG	356	broad.mit.edu	37	1	172635021	172635021	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:172635021G>T	ENST00000367721.2	+	4	895	c.711G>T	c.(709-711)caG>caT	p.Q237H	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	237					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						CTACTGGGCAGATGTGGGCCC	0.512000													12	159					2.80697e-09	3.21005e-09	1	1	0
EIF2AK3	9451	broad.mit.edu	37	2	88857452	88857452	+	Silent	SNP	G	G	A	rs56120877	byFrequency	TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:88857452G>A	ENST00000303236.3	-	17	3454	c.3153C>T	c.(3151-3153)taC>taT	p.Y1051Y	AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000419748.1_Silent_p.Y900Y	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	1051	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GAACCATCACGTACTGAAAAT	0.363000													21	87					0	0	1	0	0
FAM13A	10144	broad.mit.edu	37	4	89680017	89680017	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:89680017T>C	ENST00000264344.5	-	14	1821	c.1614A>G	c.(1612-1614)ctA>ctG	p.L538L	FAM13A_ENST00000513837.1_Silent_p.L184L|FAM13A_ENST00000511976.1_Silent_p.L124L|FAM13A_ENST00000508369.1_Silent_p.L212L|FAM13A_ENST00000503556.1_Silent_p.L198L|FAM13A_ENST00000395002.2_Silent_p.L212L	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	538					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TGGTGTCAGATAGGCTGGGAT	0.512000													12	71					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25966004	25966004	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:25966004G>A	ENST00000435504.4	-	13	3495	c.3202C>T	c.(3202-3204)Cag>Tag	p.Q1068*	ASXL2_ENST00000336112.4_Nonsense_Mutation_p.Q1040*|ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000404843.1_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	1068					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGAGAGTCTGAAGGATCTGA	0.507000													13	104					0	0	1	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028440	59028440	+	Missense_Mutation	SNP	C	C	T	rs139000061		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:59028440C>T	ENST00000594051.1	-	2	1081	c.601G>A	c.(601-603)Gcg>Acg	p.A201T	ZBTB45_ENST00000600990.1_Missense_Mutation_p.A201T|ZBTB45_ENST00000354590.3_Missense_Mutation_p.A201T			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A201T(1)		breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		TCAGGGGCCGCGGACAGTGAG	0.677000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	231					0	0	1	0	0
HSD17B1	3292	broad.mit.edu	37	17	40706834	40706834	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:40706834C>T	ENST00000585807.1	+	6	4585	c.865C>T	c.(865-867)Ccg>Tcg	p.P289S	RP11-400F19.8_ENST00000585572.1_RNA|HSD17B1_ENST00000225929.5_Missense_Mutation_p.P290S	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	289					estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	NADH(DB00157)	CGGCGACGTTCCGGCAAAggc	0.746000													3	17					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16990479	16990479	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:16990479G>A	ENST00000377833.4	-	35	5272	c.5207C>T	c.(5206-5208)tCg>tTg	p.S1736L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1736					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTCTTACCCGACACTGATGC	0.517000													6	56					0	0	1	0	0
ELMOD2	255520	broad.mit.edu	37	4	141446702	141446702	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:141446702T>C	ENST00000323570.3	+	2	252	c.120T>C	c.(118-120)ggT>ggC	p.G40G		NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	40					phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					CCTATGTAGGTGCACAAAGGA	0.368000													18	66					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29055683	29055683	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:29055683C>T	ENST00000257189.4	+	16	2543	c.2460C>T	c.(2458-2460)ggC>ggT	p.G820G		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	820					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATAATGAAGGCGCAGATGCCA	0.468000													14	59					0	0	1	0	0
DPP8	54878	broad.mit.edu	37	15	65744417	65744417	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:65744417G>A	ENST00000341861.5	-	18	3923	c.2343C>T	c.(2341-2343)gtC>gtT	p.V781V	DPP8_ENST00000559233.1_Silent_p.V781V|DPP8_ENST00000300141.6_Silent_p.V765V|DPP8_ENST00000321147.6_Silent_p.V730V|DPP8_ENST00000321118.7_Silent_p.V732V|DPP8_ENST00000358939.4_Silent_p.V665V|DPP8_ENST00000560048.2_5'UTR|DPP8_ENST00000339244.5_Silent_p.V608V	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	781					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCCACAGAGTGACTGGGGCCC	0.468000													10	105					0	0	1	0	0
ATG9A	79065	broad.mit.edu	37	2	220087144	220087144	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:220087144G>A	ENST00000409618.1	-	12	2316	c.1877C>T	c.(1876-1878)gCt>gTt	p.A626V	ATG9A_ENST00000396761.2_Missense_Mutation_p.A626V|ATG9A_ENST00000361242.4_Missense_Mutation_p.A626V|ATG9A_ENST00000409422.1_Missense_Mutation_p.A565V			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	626					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGATGAGCCAGCTACCACATT	0.587000													16	78					0	0	1	0	0
VPS54	51542	broad.mit.edu	37	2	64139705	64139705	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:64139705C>T	ENST00000354504.3	-	16	2643	c.2054G>A	c.(2053-2055)aGc>aAc	p.S685N	VPS54_ENST00000409558.3_Missense_Mutation_p.S826N|VPS54_ENST00000272322.4_Missense_Mutation_p.S838N			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	838					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						CCTAAGCATGCTATATTGCTT	0.348000													12	92					0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109117128	109117128	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:109117128A>T	ENST00000261483.4	+	9	2458	c.1406A>T	c.(1405-1407)gAt>gTt	p.D469V		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	469					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GATTTTTTTGATGCGCTGGAT	0.333000													9	38					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185976347	185976347	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:185976347G>A	ENST00000271588.4	+	30	4792	c.4563G>A	c.(4561-4563)ggG>ggA	p.G1521G	HMCN1_ENST00000367492.2_Silent_p.G1521G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1521	Ig-like C2-type 12.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGACAAGGGGCGCTACCAAT	0.378000													14	128					0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36352500	36352500	+	Missense_Mutation	SNP	G	G	A	rs146945523	by1000genomes	TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:36352500G>A	ENST00000360202.5	+	10	1445	c.1247G>A	c.(1246-1248)cGc>cAc	p.R416H	KIRREL2_ENST00000262625.7_Missense_Mutation_p.R416H|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000586102.2_Missense_Mutation_p.R396H|KIRREL2_ENST00000592409.1_Missense_Mutation_p.R416H|KIRREL2_ENST00000347900.6_Missense_Mutation_p.R366H	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	416	Ig-like C2-type 5.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGCCCTGCTCGCCTCCAGTGT	0.637000													41	165					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160018108	160018108	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:160018108A>T	ENST00000327245.5	-	23	4449	c.3603T>A	c.(3601-3603)gaT>gaA	p.D1201E		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1201					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTAGAATGCATCCACCATAG	0.418000													14	53					0	0	1	0	0
FTCD	10841	broad.mit.edu	37	21	47558810	47558810	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr21:47558810G>A	ENST00000397748.1	-	11	1331	c.1288C>T	c.(1288-1290)Cct>Tct	p.P430S	FTCD_ENST00000359679.2_Missense_Mutation_p.P430S|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397743.1_Intron|FTCD_ENST00000397746.3_Missense_Mutation_p.P430S|FTCD_ENST00000291670.5_Missense_Mutation_p.P430S|FTCD_ENST00000355384.2_Intron			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	430	Cyclodeaminase/cyclohydrolase (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	TTTTCCTCAGGTGTGTTCTTG	0.627000													23	52					0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139563977	139563977	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:139563977G>T	ENST00000358430.3	-	10	1973	c.1741C>A	c.(1741-1743)Cct>Act	p.P581T	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	581						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		AACCCGGCAGGAGAATTACTG	0.607000													23	73					2.89027e-11	3.36405e-11	1	1	0
GRIK5	2901	broad.mit.edu	37	19	42566969	42566969	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:42566969C>G	ENST00000262895.3	-	3	282	c.283G>C	c.(283-285)Ggg>Cgg	p.G95R	GRIK5_ENST00000593562.1_Missense_Mutation_p.G95R|GRIK5_ENST00000301218.4_Missense_Mutation_p.G95R	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	95						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GAGGAGGGCCCAAGGACAGAC	0.622000													5	68					0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127239564	127239564	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:127239564T>C	ENST00000265825.5	+	5	1469	c.1250T>C	c.(1249-1251)aTt>aCt	p.I417T	FSCN3_ENST00000420086.2_Missense_Mutation_p.I283T	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	417						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CCCGACCGCATTCATCTACTA	0.577000													22	80					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10096093	10096093	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:10096093C>T	ENST00000380861.4	+	16	2563	c.2172C>T	c.(2170-2172)tcC>tcT	p.S724S	WWC3_ENST00000454666.1_Silent_p.S724S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	724										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GCTGGCATTCCGTGCAGGTGT	0.572000													16	46					0	0	1	0	0
B3GALNT2	148789	broad.mit.edu	37	1	235613535	235613535	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:235613535A>T	ENST00000366600.3	-	12	1717	c.1489T>A	c.(1489-1491)Tgt>Agt	p.C497S		NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	497					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			CTTGCTTGACATCGACAAGGA	0.488000													39	98					0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130911857	130911857	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:130911857C>T	ENST00000409031.1	-	16	2917	c.1769G>A	c.(1768-1770)cGc>cAc	p.R590H	SMPD4_ENST00000443958.2_Missense_Mutation_p.R254H|SMPD4_ENST00000453750.1_Missense_Mutation_p.R339H|SMPD4_ENST00000431183.2_Missense_Mutation_p.R488H|SMPD4_ENST00000452225.2_Missense_Mutation_p.R331H|SMPD4_ENST00000339679.7_Missense_Mutation_p.R448H|SMPD4_ENST00000351288.6_Missense_Mutation_p.R561H|SMPD4_ENST00000426662.2_Missense_Mutation_p.R226H	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	551					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CACCAGGGTGCGGGCCTCGGG	0.647000													9	31					0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102053054	102053054	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:102053054G>A	ENST00000318222.3	-	10	2124	c.1742C>T	c.(1741-1743)tCt>tTt	p.S581F	PKD2L1_ENST00000353274.3_Missense_Mutation_p.S581F|PKD2L1_ENST00000338519.3_Missense_Mutation_p.S506F	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	581					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CAGGAGGTCAGAAAGTTGCAG	0.488000													9	43					0	0	1	0	0
SNAI2	6591	broad.mit.edu	37	8	49832877	49832877	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:49832877T>C	ENST00000396822.1	-	3	560	c.203A>G	c.(202-204)cAg>cGg	p.Q68R	SNAI2_ENST00000020945.1_Missense_Mutation_p.Q68R			O43623	SNAI2_HUMAN	snail family zinc finger 2	68					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				ATTGGGTAGCTGGGCGTGGAA	0.572000													15	120					0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82126021	82126021	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:82126021G>C	ENST00000395578.1	-	2	297	c.181C>G	c.(181-183)Cag>Gag	p.Q61E	PRKG2_ENST00000264399.1_Missense_Mutation_p.Q61E|PRKG2_ENST00000418486.2_Missense_Mutation_p.Q61E			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	61					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GCCACAGTCTGCTTCGACAGC	0.557000													31	92					0	0	1	0	0
PIGG	54872	broad.mit.edu	37	4	533031	533031	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:533031G>A	ENST00000453061.2	+	13	2931	c.2825G>A	c.(2824-2826)cGt>cAt	p.R942H	PIGG_ENST00000504346.1_Missense_Mutation_p.R853H|PIGG_ENST00000310340.5_Missense_Mutation_p.R934H|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.R809H	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	942					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						ACATCTCTGCGTTATCATTTA	0.413000													5	51					0	0	1	0	0
KLF10	7071	broad.mit.edu	37	8	103663875	103663875	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:103663875A>G	ENST00000395884.3	-	3	1554	c.652T>C	c.(652-654)Tat>Cat	p.Y218H	KLF10_ENST00000285407.6_Missense_Mutation_p.Y229H	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	229					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			GAAAAGTCATAAAGTGCAGCA	0.498000											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	82					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125504879	125504879	+	Silent	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:125504879G>T	ENST00000431078.1	+	14	2512	c.2148G>T	c.(2146-2148)ggG>ggT	p.G716G		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	716	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCCCTCCTGGGGTCCAGCAGT	0.517000													16	80					6.31663e-08	7.08617e-08	1	1	0
GAA	2548	broad.mit.edu	37	17	78079593	78079593	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:78079593C>A	ENST00000302262.3	+	3	811	c.592C>A	c.(592-594)Ccg>Acg	p.P198T	GAA_ENST00000390015.3_Missense_Mutation_p.P198T	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	198					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CTTGGAGACCCCGCATGTCCA	0.612000													9	40					1.58986e-06	1.74589e-06	1	1	0
TTN	7273	broad.mit.edu	37	2	179397513	179397513	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:179397513C>T	ENST00000589042.1	-	358	104053	c.103829G>A	c.(103828-103830)cGc>cAc	p.R34610H	TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R25545H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R32042H|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R25670H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R32969H|TTN_ENST00000342175.6_Missense_Mutation_p.R25737H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32969							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTGTAATGCGTGGAAGAGG	0.478000													13	47					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31617944	31617944	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:31617944T>C	ENST00000409210.1	+	6	974	c.790T>C	c.(790-792)Tca>Cca	p.S264P	CCDC129_ENST00000407970.3_Missense_Mutation_p.S356P|CCDC129_ENST00000451887.2_Missense_Mutation_p.S382P|CCDC129_ENST00000319386.3_Intron			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	356										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GTCTGAGGGGTCAGTCAAGGG	0.493000													4	55					0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74594185	74594185	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:74594185C>T	ENST00000361874.3	-	20	2620	c.2303G>A	c.(2302-2304)cGt>cAt	p.R768H	DCTN1_ENST00000407639.2_Missense_Mutation_p.R634H|DCTN1_ENST00000409438.1_Missense_Mutation_p.R634H|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409567.3_Missense_Mutation_p.R748H|DCTN1_ENST00000409240.1_Missense_Mutation_p.R731H|DCTN1_ENST00000409868.1_Missense_Mutation_p.R751H|DCTN1_ENST00000394003.3_Missense_Mutation_p.R761H	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	768					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CAAGAAGGCACGCAGCCGTCC	0.522000													5	65					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145008853	145008853	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:145008853C>T	ENST00000322810.4	-	10	1571	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T	PLEC_ENST00000357649.2_Missense_Mutation_p.A335T|PLEC_ENST00000436759.2_Missense_Mutation_p.A358T|PLEC_ENST00000356346.3_Missense_Mutation_p.A317T|PLEC_ENST00000345136.3_Missense_Mutation_p.A331T|PLEC_ENST00000354589.3_Missense_Mutation_p.A331T|PLEC_ENST00000398774.2_Missense_Mutation_p.A299T|PLEC_ENST00000354958.2_Missense_Mutation_p.A309T|PLEC_ENST00000527096.1_Missense_Mutation_p.A354T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	468	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTCCTTGGCTGGTAGCTCC	0.632000													5	110					0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116941625	116941625	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:116941625G>A	ENST00000537345.1	+	17	2730	c.2367G>A	c.(2365-2367)ccG>ccA	p.P789P	ATP1A1_ENST00000369496.4_Silent_p.P758P|ATP1A1_ENST00000295598.5_Silent_p.P789P	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	789					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	AGATCACCCCGTTCCTGATAT	0.413000													10	130					0	0	1	0	0
IGHG3	3502	broad.mit.edu	37	14	106236643	106236643	+	RNA	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:106236643G>A	ENST00000390551.2	-	0	421																											GGCACCGTGGGCATGGGGGAG	0.647000													54	312					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47361761	47361761	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:47361761T>C	ENST00000285039.7	-	39	5646	c.5347A>G	c.(5347-5349)Aat>Gat	p.N1783D	MYO5B_ENST00000592688.1_Missense_Mutation_p.N353D|MYO5B_ENST00000324581.6_Missense_Mutation_p.N898D|SCARNA17_ENST00000589499.1_RNA|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.N106D	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1783	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCAAATTCATTCAGGGGAGTA	0.333000													21	70					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164783108	164783108	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:164783108G>A	ENST00000264382.3	-	7	810	c.748C>T	c.(748-750)Cgt>Tgt	p.R250C		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	250	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.R250C(2)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AAATCATGACGAAATCTCTTA	0.343000										HNSCC(35;0.089)			5	47					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115167965	115167965	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:115167965C>T	ENST00000393274.1	-	4	1266	c.641G>A	c.(640-642)cGt>cAt	p.R214H	DENND2C_ENST00000393277.1_Missense_Mutation_p.R214H|DENND2C_ENST00000393276.3_Missense_Mutation_p.R214H	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	214								p.R214H(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAATGTCCTACGAGGTTTTGG	0.378000													28	87					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804048	27804048	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:27804048A>G	ENST00000408964.2	+	1	4660	c.4609A>G	c.(4609-4611)Aag>Gag	p.K1537E		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1537										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ACTCACACACAAGGAGCATAA	0.542000													32	127					0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142750138	142750138	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:142750138A>G	ENST00000418316.1	+	1	722	c.701A>G	c.(700-702)aAg>aGg	p.K234R		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					AGCTGCCAGAAGGCTTTCTCC	0.547000													45	169					0	0	1	0	0
ACER1	125981	broad.mit.edu	37	19	6306730	6306730	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:6306730A>G	ENST00000301452.4	-	6	867	c.790T>C	c.(790-792)Tgc>Cgc	p.C264R		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	264						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						AGGTCTCAGCAGTCCTTGTCA	0.582000													14	50					0	0	1	0	0
CDH24	64403	broad.mit.edu	37	14	23518334	23518334	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:23518334C>T	ENST00000397359.3	-	12	2121	c.1862G>A	c.(1861-1863)gGc>gAc	p.G621D	CDH24_ENST00000267383.5_Missense_Mutation_p.G621D|CDH24_ENST00000487137.2_Missense_Mutation_p.G583D|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000554034.1_Missense_Mutation_p.G583D	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	621	Cadherin 5.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TGCCACAGAGCCGTCAGGCTG	0.647000													6	18					0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131404747	131404747	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:131404747G>A	ENST00000512055.1	-	10	2689	c.563C>T	c.(562-564)gCa>gTa	p.A188V	CPNE4_ENST00000429747.1_Missense_Mutation_p.A188V|CPNE4_ENST00000502818.1_Missense_Mutation_p.A206V|CPNE4_ENST00000512332.1_Missense_Mutation_p.A206V|CPNE4_ENST00000511604.1_Missense_Mutation_p.A188V			Q96A23	CPNE4_HUMAN	copine IV	188	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CTGCTGAGTTGCATCATCATT	0.378000													4	44					0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21991863	21991863	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:21991863G>A	ENST00000594012.1	-	7	1472	c.958C>T	c.(958-960)Ccc>Tcc	p.P320S	ZNF43_ENST00000598381.1_Missense_Mutation_p.P320S|ZNF43_ENST00000354959.4_Missense_Mutation_p.P326S|ZNF43_ENST00000595461.1_Missense_Mutation_p.P320S	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AGAGTTGAGGGCCAGTTAAAG	0.383000													6	74					0	0	1	0	0
PRDX6	9588	broad.mit.edu	37	1	173446606	173446606	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:173446606C>T	ENST00000340385.5	+	1	202	c.70C>T	c.(70-72)Cgt>Tgt	p.R24C		NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	24	Thioredoxin.				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						CGGCCGCATCCGTTTCCACGA	0.652000													11	35					0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5077464	5077464	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:5077464G>A	ENST00000159111.4	+	8	981	c.763G>A	c.(763-765)Ggg>Agg	p.G255R	KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000536461.1_Missense_Mutation_p.G255R|KDM4B_ENST00000381759.4_Missense_Mutation_p.G255R	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	255	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GAAGAAGTACGGGATCCCCTT	0.642000													39	130					0	0	1	0	0
BACH1	571	broad.mit.edu	37	21	30701833	30701833	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr21:30701833G>A	ENST00000399921.1	+	4	1838	c.1595G>A	c.(1594-1596)cGg>cAg	p.R532Q	BACH1_ENST00000286800.3_Missense_Mutation_p.R532Q	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	532						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						AATGCACAACGGATAATTTCA	0.323000													6	19					0	0	1	0	0
THNSL1	79896	broad.mit.edu	37	10	25313553	25313553	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:25313553G>A	ENST00000524413.1	+	3	1748	c.1401G>A	c.(1399-1401)tcG>tcA	p.S467S	THNSL1_ENST00000376356.4_Silent_p.S467S			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	467					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	TCTTAAGTTCGGCTAACTCCA	0.368000													6	120					0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77710989	77710989	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:77710989C>T	ENST00000328313.5	+	4	1397	c.1176C>T	c.(1174-1176)tgC>tgT	p.C392C		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	392					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AGCTCATGTGCCGGCTGCTGG	0.642000													12	39					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159163772	159163772	+	Silent	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:159163772G>C	ENST00000368125.4	+	5	790	c.633G>C	c.(631-633)gtG>gtC	p.V211V	CADM3_ENST00000368124.4_Silent_p.V245V	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	211	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TGTGCTCTGTGAACCATGAAT	0.493000													7	85					0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19766207	19766207	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:19766207G>A	ENST00000357324.6	-	11	1478	c.1452C>T	c.(1450-1452)atC>atT	p.I484I	ATP13A1_ENST00000291503.5_Silent_p.I366I|ATP13A1_ENST00000496082.1_5'UTR	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	484					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCGAGGTGAGGATCAGGGTGC	0.637000													4	46					0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72295736	72295736	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:72295736C>T	ENST00000334456.5	-	18	1641	c.1396G>A	c.(1396-1398)Gcg>Acg	p.A466T	PDE2A_ENST00000418754.2_Missense_Mutation_p.A351T|PDE2A_ENST00000540345.1_Missense_Mutation_p.A457T|PDE2A_ENST00000376450.3_Missense_Mutation_p.A210T|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000444035.2_Missense_Mutation_p.A457T|PDE2A_ENST00000544570.1_Missense_Mutation_p.A459T	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	466	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	ACGTGTCCCGCGATGCCCTGA	0.622000													6	44					0	0	1	0	0
DCST1	149095	broad.mit.edu	37	1	155013003	155013003	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:155013003C>T	ENST00000295542.1	+	6	530	c.434C>T	c.(433-435)gCa>gTa	p.A145V	DCST1_ENST00000392480.1_Missense_Mutation_p.A145V|DCST1_ENST00000368419.2_Missense_Mutation_p.A145V|DCST1_ENST00000423025.2_Missense_Mutation_p.A120V	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	145						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AACGTGATCGCATCGCTGGGC	0.582000													3	17					0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50905061	50905061	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:50905061C>G	ENST00000440232.2	+	4	396	c.343C>G	c.(343-345)Ccc>Gcc	p.P115A	POLD1_ENST00000595904.1_Missense_Mutation_p.P115A|POLD1_ENST00000599857.1_Missense_Mutation_p.P115A	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	115					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GCCTGGGGGGCCCCCACCATC	0.662000								DNA polymerases (catalytic subunits)					9	73					0	0	1	0	0
DPF2	5977	broad.mit.edu	37	11	65113496	65113496	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:65113496G>T	ENST00000528416.1	+	8	1004	c.871G>T	c.(871-873)Gag>Tag	p.E291*	DPF2_ENST00000252268.4_Nonsense_Mutation_p.E305*|DPF2_ENST00000415073.2_Intron|DPF2_ENST00000532264.1_3'UTR	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	291					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						ACAACCCGAGGAGCTGGTGTC	0.562000													8	126					0.000157383	0.000166221	1	1	0
SCARB2	950	broad.mit.edu	37	4	77091113	77091113	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:77091113T>C	ENST00000264896.2	-	8	1369	c.1020A>G	c.(1018-1020)ccA>ccG	p.P340P	SCARB2_ENST00000452464.2_Silent_p.P197P	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	340					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			GGTAAAAGTGTGGGAAAGACA	0.398000													10	109					0	0	1	0	0
RHNO1	83695	broad.mit.edu	37	12	2997084	2997084	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:2997084C>T	ENST00000489288.2	+	3	328	c.176C>T	c.(175-177)cCt>cTt	p.P59L	RHNO1_ENST00000464682.2_3'UTR|RHNO1_ENST00000461997.2_Missense_Mutation_p.P45L	NM_001252499.2|NM_001257097.1|NM_001257098.1	NP_001239428.1|NP_001244026.1|NP_001244027.1			RAD9-HUS1-RAD1 interacting nuclear orphan 1																		AAGGTATCACCTGATTTTGAT	0.433000													4	19					0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78221997	78221997	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:78221997G>T	ENST00000361193.3	+	14	1643	c.1363G>T	c.(1363-1365)Gcc>Tcc	p.A455S	SLC26A11_ENST00000546047.2_Missense_Mutation_p.A455S|SLC26A11_ENST00000411502.3_Missense_Mutation_p.A455S|SLC26A11_ENST00000572725.1_Missense_Mutation_p.A455S	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	455						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CGGCATCCTGGCCGGGGCCCT	0.662000													4	14					0.184627	0.185572	1	1	0
MBD5	55777	broad.mit.edu	37	2	149260037	149260037	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:149260037A>T	ENST00000407073.1	+	13	5293	c.4296A>T	c.(4294-4296)gaA>gaT	p.E1432D	MBD5_ENST00000404807.1_Missense_Mutation_p.E1665D	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1432	PWWP.					chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CACTAACAGAAGGTTTGGAAG	0.393000													9	29					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15561289	15561289	+	Splice_Site	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:15561289C>A	ENST00000378076.3	-	29	3458	c.3105_splice	c.e29+1	p.K1035_splice		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	1035					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ATCAACTTACCTTCCATAAAG	0.363000													43	157					2.00842e-17	2.42713e-17	1	1	0
DMRTA2	63950	broad.mit.edu	37	1	50885183	50885183	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:50885183G>A	ENST00000404795.3	-	3	1175	c.783C>T	c.(781-783)ggC>ggT	p.G261G	DMRTA2_ENST00000418121.1_Silent_p.G261G	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	261	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(4)|pancreas(1)	6						CTGGGCAGCTGCCACCTGCCT	0.697000													3	13					0	0	1	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117834	46117834	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr21:46117834T>A	ENST00000400365.3	+	1	748	c.718T>A	c.(718-720)Tgt>Agt	p.C240S	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	240						keratin filament				large_intestine(1)|lung(8)	9						CCGCCCCACATGTTCCCGCCT	0.711000													5	61					0	0	1	0	0
AAMP	14	broad.mit.edu	37	2	219129810	219129810	+	Silent	SNP	G	G	T	rs150748826		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:219129810G>T	ENST00000248450.4	-	10	1332	c.1162C>A	c.(1162-1164)Cgg>Agg	p.R388R	AAMP_ENST00000444053.1_Silent_p.R389R|AAMP_ENST00000420660.1_Silent_p.R369R			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	388					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGCCGGTCCGGGCGTCCCAG	0.627000													6	127					0.00116845	0.00121162	1	1	0
ZNF44	51710	broad.mit.edu	37	19	12358827	12358827	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:12358827A>G	ENST00000426973.1	-	4	887	c.888T>C	c.(886-888)tgT>tgC	p.C296C				P15621	ZNF44_HUMAN	zinc finger protein 44	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		ACACTTTCCCACATTTTTTAC	0.373000													4	12					0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701359	56701359	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:56701359T>C	ENST00000586855.2	-	5	1638	c.1325A>G	c.(1324-1326)aAa>aGa	p.K442R	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.K442R			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	442					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GCTGCAGTATTTACATTTAAA	0.552000													11	51					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178684995	178684995	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:178684995T>C	ENST00000286063.5	-	7	1845	c.1528A>G	c.(1528-1530)Aga>Gga	p.R510G	PDE11A_ENST00000358450.4_Missense_Mutation_p.R260G|PDE11A_ENST00000389683.3_Missense_Mutation_p.R66G|PDE11A_ENST00000409504.1_Missense_Mutation_p.R152G|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000449286.2_Missense_Mutation_p.R152G	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	510	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			AGAACAGATCTTATGTGAAAA	0.289000									Primary Pigmented Nodular Adrenocortical Disease, Familial				10	75					0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72468438	72468438	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:72468438C>T	ENST00000373208.1	+	4	774	c.774C>T	c.(772-774)agC>agT	p.S258S	ADAMTS14_ENST00000373207.1_Silent_p.S258S	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	258					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AGCCAGGCAGCTACAGCATCG	0.612000													18	65					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17597576	17597576	+	Missense_Mutation	SNP	C	C	G	rs147256594	by1000genomes	TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:17597576C>G	ENST00000375460.3	+	9	990	c.950C>G	c.(949-951)aCg>aGg	p.T317R		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	317					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGGAACAACACGTGTTTTGTG	0.647000													7	40					0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115803427	115803427	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:115803427G>A	ENST00000343348.6	-	18	2533	c.1746C>T	c.(1744-1746)ctC>ctT	p.L582L	CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.L582L|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.L599L|SEMA6A_ENST00000513137.1_Silent_p.L9L|SEMA6A_ENST00000282394.6_Intron	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	582					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGCTGGGCAAGAGGGAACTGG	0.527000													4	31					0	0	1	0	0
RPLP0P6	220717	broad.mit.edu	37	2	38708981	38708981	+	RNA	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:38708981C>T	ENST00000417039.1	-	0	696																											CAATCCCTGACGCACCGCCGT	0.498000													4	13					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15734146	15734146	+	RNA	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:15734146C>A	ENST00000441682.2	+	0	940							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						AGGCCAAGTCCAAGACTTTGG	0.537000													21	88					7.45023e-12	8.74054e-12	1	1	0
NCOA2	10499	broad.mit.edu	37	8	71068646	71068646	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:71068646T>A	ENST00000452400.2	-	11	2135	c.1954A>T	c.(1954-1956)Atg>Ttg	p.M652L	NCOA2_ENST00000524223.1_5'UTR	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	652					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GAGGGCTCCATCTGATCAGAT	0.562000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								13	104					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38266409	38266409	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr13:38266409A>G	ENST00000379705.3	-	4	1818	c.961T>C	c.(961-963)Tgg>Cgg	p.W321R	TRPC4_ENST00000338947.5_Missense_Mutation_p.W148R|TRPC4_ENST00000358477.2_Missense_Mutation_p.W321R|TRPC4_ENST00000355779.2_Missense_Mutation_p.W321R|TRPC4_ENST00000447043.1_Missense_Mutation_p.W321R|TRPC4_ENST00000426868.2_Missense_Mutation_p.W321R|TRPC4_ENST00000379673.2_Missense_Mutation_p.W321R|TRPC4_ENST00000379681.3_Missense_Mutation_p.W321R|TRPC4_ENST00000379679.1_Missense_Mutation_p.W148R			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	321					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTTCTCCTCCAGCCTGGAAAC	0.468000													6	40					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228167757	228167757	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:228167757G>T	ENST00000396578.3	+	44	4048	c.3886G>T	c.(3886-3888)Gca>Tca	p.A1296S	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|COL4A3_ENST00000468753.1_3'UTR	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1296	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AATATAGGGAGCACCAGGTAC	0.393000													17	52					1.45105e-14	1.73225e-14	1	1	0
ACACB	32	broad.mit.edu	37	12	109577466	109577466	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:109577466G>T	ENST00000338432.7	+	2	375	c.256G>T	c.(256-258)Ggt>Tgt	p.G86C	ACACB_ENST00000377854.5_Missense_Mutation_p.G86C|ACACB_ENST00000377848.3_Missense_Mutation_p.G86C			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	86					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CAAAGATGCCGGTCGGCGGAG	0.627000													33	121					1.06801e-11	1.24884e-11	1	1	0
SERPINA3	12	broad.mit.edu	37	14	95081374	95081374	+	Missense_Mutation	SNP	T	T	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:95081374T>G	ENST00000553947.1	+	5	1559	c.671T>G	c.(670-672)cTt>cGt	p.L224R	SERPINA3_ENST00000393080.4_Missense_Mutation_p.L199R|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393078.3_Missense_Mutation_p.L199R|SERPINA3_ENST00000467132.1_Missense_Mutation_p.L199R			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	199					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ATCAAGGACCTTGACTCGCAG	0.478000													19	113					0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116605995	116605995	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:116605995T>C	ENST00000369248.4	+	10	1602	c.1267T>C	c.(1267-1269)Tct>Cct	p.S423P	FAM160B1_ENST00000369250.3_Missense_Mutation_p.S423P	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	423										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GCAAGTGACCTCTGATGTTTT	0.443000													39	126					0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77896436	77896436	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:77896436A>G	ENST00000262198.4	+	4	3595	c.3140A>G	c.(3139-3141)gAa>gGa	p.E1047G		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1047					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AAAAAATATGAAGGCCGTTCT	0.348000													13	52					0	0	1	0	0
PFKP	5214	broad.mit.edu	37	10	3158984	3158984	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:3158984G>T	ENST00000381075.2	+	16	1588	c.1364G>T	c.(1363-1365)tGg>tTg	p.W455L	PFKP_ENST00000381125.4_Missense_Mutation_p.W463L	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	463					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GAAATCGGCTGGACAGATGTC	0.438000													42	109					8.20599e-20	9.95757e-20	1	1	0
IGKV1-6	28943	broad.mit.edu	37	2	89266202	89266202	+	RNA	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:89266202C>T	ENST00000464162.1	-	0	84																											TCCATCCTTACCTGGGAGCCA	0.557000													20	205					0	0	1	0	0
CLRN2	645104	broad.mit.edu	37	4	17528453	17528453	+	Silent	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:17528453G>C	ENST00000511148.2	+	3	549	c.447G>C	c.(445-447)gcG>gcC	p.A149A		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	149						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						GCGTCGTGGCGTTAGCCATCG	0.522000													8	38					0	0	1	0	0
LDLRAD4	753	broad.mit.edu	37	18	13645226	13645226	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:13645226A>G	ENST00000361205.4	+	7	1159	c.491A>G	c.(490-492)cAc>cGc	p.H164R	LDLRAD4_ENST00000587757.1_Missense_Mutation_p.H127R|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.H66R|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.H109R|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.H164R|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.H146R|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.H87R	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4																		TATGTGCAGCACGAGATTGAT	0.627000													30	100					0	0	1	0	0
SULT1B1	27284	broad.mit.edu	37	4	70615503	70615503	+	Missense_Mutation	SNP	C	C	A	rs149557615		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:70615503C>A	ENST00000310613.2	-	4	608	c.311G>T	c.(310-312)cGg>cTg	p.R104L		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	104					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TTTCACAATCCGGGGTGATGG	0.378000													20	75					4.96729e-08	5.57598e-08	1	1	0
PNPT1	87178	broad.mit.edu	37	2	55895085	55895085	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:55895085G>C	ENST00000447944.2	-	12	1071	c.985C>G	c.(985-987)Cca>Gca	p.P329A		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	329					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	p.P329S(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCGGCTTCTGGAAATTTTTCT	0.289000													5	27					0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661476	4661476	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:4661476T>C	ENST00000357605.2	+	1	532	c.456T>C	c.(454-456)tgT>tgC	p.C152C		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGACAGGGTGTACTGTGGCCA	0.542000													21	131					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187076	152187076	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:152187076G>T	ENST00000368801.2	-	3	7104	c.7029C>A	c.(7027-7029)caC>caA	p.H2343Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2343					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGACTCGTGGTGACCAAATC	0.572000													121	1922					6.20203e-27	7.57265e-27	1	1	0
VPS13C	54832	broad.mit.edu	37	15	62241764	62241764	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:62241764G>T	ENST00000261517.5	-	42	4710	c.4637C>A	c.(4636-4638)gCt>gAt	p.A1546D	VPS13C_ENST00000395898.3_Missense_Mutation_p.A1503D|VPS13C_ENST00000395896.4_Missense_Mutation_p.A1546D|VPS13C_ENST00000249837.3_Missense_Mutation_p.A1503D	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1546					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GGAAAGTAAAGCTTCCAAATG	0.403000													4	57					1.024e-07	1.14657e-07	1	1	0
PTPRG	5793	broad.mit.edu	37	3	62189588	62189588	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:62189588T>C	ENST00000474889.1	+	12	2496	c.2119T>C	c.(2119-2121)Ttt>Ctt	p.F707L	PTPRG_ENST00000295874.10_Missense_Mutation_p.F707L	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	707					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CGGGGACCGATTTTCTGAAGA	0.517000													8	38					0	0	1	0	0
EEF1A1	1915	broad.mit.edu	37	6	74228506	74228506	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:74228506A>G	ENST00000316292.9	-	4	1678	c.687T>C	c.(685-687)ctT>ctC	p.L229L	EEF1A1_ENST00000309268.6_Silent_p.L229L|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Silent_p.L229L	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	229						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CCAGAGCCTCAAGCAGCGTGG	0.507000											OREG0003891|OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	12	55					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10419387	10419387	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:10419387A>T	ENST00000226207.5	-	5	455	c.361T>A	c.(361-363)Ttg>Atg	p.L121M	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	121	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ACACAGAACAAGCCTGAGTAG	0.468000													23	122					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22804642	22804642	+	Silent	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:22804642C>G	ENST00000361524.3	-	4	3388	c.3240G>C	c.(3238-3240)ctG>ctC	p.L1080L	ZNF521_ENST00000584787.1_Silent_p.L860L|ZNF521_ENST00000538137.2_Silent_p.L1080L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1080					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CAAGTTTCACCAGATCTTGCT	0.542000			T	PAX5	ALL								10	79					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318220	30318220	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:30318220C>A	ENST00000375377.1	-	3	958	c.857G>T	c.(856-858)cGg>cTg	p.R286L		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	286	Pro-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AAACTTAGGCCGGGGAAATGG	0.567000													23	91					1.50039e-11	1.75095e-11	1	1	0
WDR59	79726	broad.mit.edu	37	16	74942824	74942824	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:74942824G>T	ENST00000262144.6	-	17	1824	c.1694C>A	c.(1693-1695)cCc>cAc	p.P565H		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	565										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						AGGCTCTGTGGGAGACACCGC	0.562000													16	49					2.62699e-14	3.12973e-14	1	1	0
CD300A	11314	broad.mit.edu	37	17	72470012	72470012	+	Splice_Site	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:72470012G>T	ENST00000360141.3	+	2	666	c.379_splice	c.e2+1	p.P126_splice	CD300A_ENST00000310828.5_Intron|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000361933.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	126					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						CCGTGTTCCCGGGTGAGCCCC	0.557000													13	59					1.02788e-11	1.20271e-11	1	1	0
KALRN	8997	broad.mit.edu	37	3	123988084	123988084	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:123988084C>T	ENST00000360013.3	+	5	1072	c.945C>T	c.(943-945)ttC>ttT	p.F315F	KALRN_ENST00000460856.1_Silent_p.F315F|KALRN_ENST00000240874.3_Silent_p.F315F	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	315					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						TGCGGCTCTTCGAGCAGGATG	0.572000													10	53					0	0	1	0	0
CYP26A1	1592	broad.mit.edu	37	10	94836938	94836938	+	Silent	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:94836938G>T	ENST00000371531.1	+	7	1542	c.1164G>T	c.(1162-1164)gtG>gtT	p.V388V	CYP26A1_ENST00000394139.1_Silent_p.V388V|CYP26A1_ENST00000224356.4_Silent_p.V457V	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	457					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				TATTTACAGTGGAGCTGGCCA	0.463000													8	31					0.000157383	0.000166221	1	1	0
OR5M11	219487	broad.mit.edu	37	11	56310655	56310655	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:56310655G>A	ENST00000528616.2	-	1	102	c.79C>T	c.(79-81)Ctt>Ttt	p.L27F		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AGCACAAAAAGCAGAGACTGG	0.468000													11	121					0	0	1	0	0
TRIM28	10155	broad.mit.edu	37	19	59059660	59059660	+	Splice_Site	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:59059660G>A	ENST00000253024.5	+	8	1390		c.e8-1		TRIM28_ENST00000341753.6_Splice_Site	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28						epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CTCCCAACCAGATCTACTTCC	0.542000													23	100					0	0	1	0	0
PROSER1	80209	broad.mit.edu	37	13	39605735	39605735	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr13:39605735C>A	ENST00000352251.3	-	3	978	c.145G>T	c.(145-147)Gag>Tag	p.E49*	PROSER1_ENST00000350125.3_Nonsense_Mutation_p.E27*	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	49																	AACTGGGGCTCGGCCCAGGAA	0.363000													15	52					3.52763e-06	3.84991e-06	1	1	0
MYC	4609	broad.mit.edu	37	8	128750683	128750683	+	Missense_Mutation	SNP	C	C	A	rs121918685		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:128750683C>A	ENST00000377970.2	+	2	730	c.220C>A	c.(220-222)Ccg>Acg	p.P74T	MYC_ENST00000259523.6_Missense_Mutation_p.P59T|MYC_ENST00000524013.1_Missense_Mutation_p.P73T	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	59					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		GCTGCCCACCCCGCCCCTGTC	0.677000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	29					9.05144e-12	1.0605e-11	1	1	0
LLGL1	3996	broad.mit.edu	37	17	18139956	18139956	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:18139956C>T	ENST00000316843.4	+	12	1484	c.1388C>T	c.(1387-1389)tCg>tTg	p.S463L		NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	463					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					TGGGATGCCTCGGGTGTGGCG	0.657000													11	65					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951497	119951497	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:119951497G>T	ENST00000307142.4	+	4	1763	c.1567G>T	c.(1567-1569)Gat>Tat	p.D523Y	SYNPO2_ENST00000434046.2_Missense_Mutation_p.D523Y|SYNPO2_ENST00000429713.2_Missense_Mutation_p.D523Y|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	523						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CAGAGAACAAGATGCTGCCCA	0.512000													4	59					0.014758	0.0149955	1	1	0
TRAM2	9697	broad.mit.edu	37	6	52374378	52374378	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:52374378A>G	ENST00000182527.3	-	5	417	c.418T>C	c.(418-420)Tac>Cac	p.Y140H	EFHC1_ENST00000433625.2_Intron	NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN	translocation associated membrane protein 2	140	TLC.				collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding			endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					TTTGTTAAGTATCCTTCCTGC	0.587000													17	67					0	0	1	0	0
MARS2	92935	broad.mit.edu	37	2	198570844	198570844	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:198570844C>T	ENST00000282276.6	+	1	758	c.715C>T	c.(715-717)Cat>Tat	p.H239Y	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	239					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CGAACCATTTCATCACGTAGT	0.592000													11	57					0	0	1	0	0
ACTR1A	10121	broad.mit.edu	37	10	104247959	104247959	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:104247959C>T	ENST00000369905.4	-	4	326	c.263G>A	c.(262-264)cGc>cAc	p.R88H	ACTR1A_ENST00000446605.2_Missense_Mutation_p.R41H|ACTR1A_ENST00000487599.1_Missense_Mutation_p.R88H|ACTR1A_ENST00000545684.1_Missense_Mutation_p.R14H	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	88					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TTGCCAAATGCGTTCCATGTC	0.512000													22	63					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128505634	128505634	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:128505634C>A	ENST00000368227.3	-	7	1471	c.1105G>T	c.(1105-1107)Ggt>Tgt	p.G369C	PTPRK_ENST00000532331.1_Missense_Mutation_p.G369C|PTPRK_ENST00000368213.5_Missense_Mutation_p.G369C|PTPRK_ENST00000368226.4_Missense_Mutation_p.G369C|PTPRK_ENST00000368207.3_Missense_Mutation_p.G369C|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Missense_Mutation_p.G369C|PTPRK_ENST00000368215.3_Missense_Mutation_p.G369C			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	369	Fibronectin type-III 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CCACCTTCACCAGGTCTTGTA	0.453000													24	116					0.000295444	0.000309997	1	1	0
AKAP9	10142	broad.mit.edu	37	7	91625027	91625027	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:91625027C>T	ENST00000359028.2	+	8	1104	c.879C>T	c.(877-879)gaC>gaT	p.D293D	AKAP9_ENST00000356239.3_Silent_p.D281D|AKAP9_ENST00000394564.1_Silent_p.D281D|AKAP9_ENST00000358100.2_Silent_p.D293D			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	293					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAGAACAAGACCACTTATTAG	0.348000			T	BRAF	papillary thyroid								11	48					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62197486	62197486	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:62197486C>T	ENST00000467148.1	-	8	2758	c.2689G>A	c.(2689-2691)Gtg>Atg	p.V897M	HELZ2_ENST00000427522.2_Missense_Mutation_p.V328M	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GTGTTGAGCACGCGGGCGTCG	0.697000													5	9					0	0	1	0	0
PRMT8	56341	broad.mit.edu	37	12	3678689	3678689	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:3678689T>C	ENST00000382622.3	+	6	1061	c.671T>C	c.(670-672)gTa>gCa	p.V224A	PRMT8_ENST00000452611.2_Missense_Mutation_p.V215A|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	224					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TTGTACGTGGTAGCGATTGAA	0.493000													18	76					0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164466421	164466421	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:164466421G>A	ENST00000333129.3	-	3	2235	c.1921C>T	c.(1921-1923)Cgg>Tgg	p.R641W	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	641						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AAGTACCTCCGAAGGGATTCA	0.438000													7	112					0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25019697	25019697	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:25019697G>C	ENST00000382114.4	-	6	754	c.569C>G	c.(568-570)tCt>tGt	p.S190C		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	190	LRRCT.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CAGCACATCAGAAACGGTGGA	0.393000													19	137					0	0	1	0	0
HOMER3	9454	broad.mit.edu	37	19	19043762	19043762	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:19043762G>A	ENST00000596918.1	-	2	187	c.188C>T	c.(187-189)gCg>gTg	p.A63V	HOMER3_ENST00000594439.1_Silent_p.R132R|HOMER3_ENST00000433218.2_Silent_p.R168R|HOMER3_ENST00000594794.1_Intron|HOMER3_ENST00000221222.11_Silent_p.R168R|HOMER3_ENST00000539827.1_Silent_p.R168R|HOMER3_ENST00000355887.6_Silent_p.R168R|HOMER3_ENST00000542541.2_Silent_p.R168R|HOMER3_ENST00000392351.3_Silent_p.R168R																							TTAGCCGCTCGCGCTCTGTGG	0.687000													15	42					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186969493	186969493	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:186969493G>A	ENST00000337774.5	-	7	1329	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S	MASP1_ENST00000392472.2_Missense_Mutation_p.P201S|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Missense_Mutation_p.P288S|MASP1_ENST00000296280.6_Missense_Mutation_p.P314S|MASP1_ENST00000169293.6_Missense_Mutation_p.P314S	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	314	Sushi 1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GCTTGGGAGGGCTCGATTTTC	0.507000													14	100					0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139715527	139715527	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:139715527A>G	ENST00000263552.6	+	15	1772	c.1234A>G	c.(1234-1236)Aca>Gca	p.T412A	TBXAS1_ENST00000416849.2_Missense_Mutation_p.T458A|TBXAS1_ENST00000414508.2_Missense_Mutation_p.T412A|TBXAS1_ENST00000411653.1_Missense_Mutation_p.T411A|TBXAS1_ENST00000436047.2_Missense_Mutation_p.T412A|TBXAS1_ENST00000448866.1_Missense_Mutation_p.T411A|TBXAS1_ENST00000425687.1_Missense_Mutation_p.T344A|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000458722.1_Missense_Mutation_p.T457A|TBXAS1_ENST00000336425.5_Missense_Mutation_p.T411A	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	411			R -> Q (in GHDD).		hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CCTCAGATTCACACGGGAGGC	0.632000													13	79					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80704477	80704477	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:80704477C>A	ENST00000458043.2	+	29	3399	c.3393C>A	c.(3391-3393)taC>taA	p.Y1131*	OTOGL_ENST00000547103.1_Nonsense_Mutation_p.Y1131*	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CCATTTTGTACAGTGATATTT	0.338000													7	48					0.0293803	0.0297676	1	1	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000225576.3_Intron					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													10	79					0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46563725	46563725	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:46563725G>A	ENST00000458649.2	-	7	2260	c.1842C>T	c.(1840-1842)agC>agT	p.S614S	AMBRA1_ENST00000528950.1_Silent_p.S614S|AMBRA1_ENST00000534300.1_Silent_p.S614S|AMBRA1_ENST00000298834.3_Silent_p.S614S|AMBRA1_ENST00000533727.1_Silent_p.S524S|AMBRA1_ENST00000426438.1_Silent_p.S614S|AMBRA1_ENST00000314845.3_Silent_p.S524S			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	614	Ser-rich.				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GTGGCAACTGGCTGCCACTTG	0.617000													4	32					0	0	1	0	0
CEP170P1	645455	broad.mit.edu	37	4	119472272	119472272	+	RNA	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:119472272T>C	ENST00000412784.2	+	0	569					NR_003135.2																						TGGGATGACATAGAAAGCAAA	0.264000													3	15					0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71233804	71233804	+	Missense_Mutation	SNP	A	A	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:71233804A>C	ENST00000418814.2	+	14	1852	c.1238A>C	c.(1237-1239)tAt>tCt	p.Y413S	FAM135A_ENST00000370479.3_Missense_Mutation_p.Y396S|FAM135A_ENST00000361499.3_Missense_Mutation_p.Y413S|FAM135A_ENST00000505868.1_Missense_Mutation_p.Y413S|FAM135A_ENST00000505769.1_Missense_Mutation_p.Y413S|FAM135A_ENST00000457062.2_Missense_Mutation_p.Y396S	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	413										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GAAGATAGGTATTTAGATTCA	0.303000													3	29					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	979057	979057	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:979057C>T	ENST00000379370.2	+	9	1793	c.1743C>T	c.(1741-1743)caC>caT	p.H581H		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	581	Kazal-like 6.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GCATGCTGCACGTGCACGCCT	0.701000													9	58					0	0	1	0	0
SH3BP5L	80851	broad.mit.edu	37	1	249110741	249110741	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:249110741C>G	ENST00000366472.5	-	4	1596	c.367G>C	c.(367-369)Gct>Cct	p.A123P	SH3BP5L_ENST00000411742.2_Missense_Mutation_p.A91P|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	123										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			ACCTCCTTAGCCAGCCGCCGA	0.562000													7	86					0	0	1	0	0
GOLGA2P9	440518	broad.mit.edu	37	19	22784160	22784160	+	RNA	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:22784160A>T	ENST00000600260.1	+	0	595					NR_033899.1																						CCCGCCCCTTAGGAGCACCTG	0.627000													3	9					0	0	1	0	0
C4orf40	401137	broad.mit.edu	37	4	71027311	71027311	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:71027311G>T	ENST00000344526.5	+	4	846	c.657G>T	c.(655-657)caG>caT	p.Q219H	C4orf40_ENST00000502294.1_Missense_Mutation_p.Q219H	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	219						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGGCAAATCAGTGAAATTCTC	0.264000													6	36					0.248553	0.249116	1	1	0
OR2A5	393046	broad.mit.edu	37	7	143748150	143748150	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:143748150C>T	ENST00000408906.2	+	1	690	c.656C>T	c.(655-657)tCg>tTg	p.S219L		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GTCTCCTACTCGCGCATCCTG	0.597000													35	167					0	0	1	0	0
TNNI1	7135	broad.mit.edu	37	1	201383686	201383686	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:201383686G>T	ENST00000361379.4	-	5	241	c.149C>A	c.(148-150)cCc>cAc	p.P50H	TNNI1_ENST00000367312.1_Missense_Mutation_p.P50H|TNNI1_ENST00000555948.1_Missense_Mutation_p.P50H|TNNI1_ENST00000336092.4_Missense_Mutation_p.P50H	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	50					muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						CTGCAGCGTGGGGATGCGCTC	0.682000													6	27					3.59834e-05	3.86504e-05	1	1	0
ARHGAP8	23779	broad.mit.edu	37	22	45255677	45255677	+	Missense_Mutation	SNP	A	A	G	rs139756068		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr22:45255677A>G	ENST00000517296.3	+	16	1574	c.1574A>G	c.(1573-1575)tAc>tGc	p.Y525C	ARHGAP8_ENST00000389774.2_Missense_Mutation_p.Y346C|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.Y446C|ARHGAP8_ENST00000336963.4_Intron|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.Y437C|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.Y525C|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.Y315C					Rho GTPase activating protein 8											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		GAGCACAACTACGTCGTCCTC	0.657000													11	41					0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776645	5776645	+	Silent	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:5776645G>T	ENST00000317254.3	+	1	723	c.675G>T	c.(673-675)cgG>cgT	p.R225R	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TGATTCTCCGGGCAGTGGTCA	0.488000													21	122					2.4624e-09	2.81964e-09	1	1	0
ZNF714	148206	broad.mit.edu	37	19	21300183	21300183	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:21300183A>G	ENST00000596143.1	+	5	1038	c.713A>G	c.(712-714)tAc>tGc	p.Y238C	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN	zinc finger protein 714	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						AAAGCCTTCTACCATTCTTCA	0.413000													10	61					0	0	1	0	0
SEL1L	6400	broad.mit.edu	37	14	81969103	81969103	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:81969103C>T	ENST00000336735.4	-	6	855	c.739G>A	c.(739-741)Gag>Aag	p.E247K	SEL1L_ENST00000555824.1_Missense_Mutation_p.E247K	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	247	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		GTCAGCTTCTCAAACATCTCT	0.433000													16	207					0	0	1	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35512615	35512615	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:35512615G>T	ENST00000599564.1	+	16	1932	c.1861G>T	c.(1861-1863)Gag>Tag	p.E621*	GRAMD1A_ENST00000317991.5_Nonsense_Mutation_p.E534*|GRAMD1A_ENST00000504615.2_Nonsense_Mutation_p.E300*|GRAMD1A_ENST00000411896.2_Nonsense_Mutation_p.E527*|CTD-2527I21.14_ENST00000605640.1_RNA			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	534						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CGCCAAGGCTGAGAAGCTGTC	0.687000													5	78					0.000602214	0.000628893	1	1	0
ZC3H11A	9877	broad.mit.edu	37	1	203809449	203809449	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:203809449C>T	ENST00000545588.1	+	11	4816	c.989C>T	c.(988-990)tCt>tTt	p.S330F	ZC3H11A_ENST00000367212.3_Missense_Mutation_p.S330F|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.S330F|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.S330F|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.S330F	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	330							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTTTCCAAGTCTCTTAAGGAG	0.368000													10	128					0	0	1	0	0
FLAD1	80308	broad.mit.edu	37	1	154960557	154960557	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:154960557C>T	ENST00000368431.3	+	3	872	c.52C>T	c.(52-54)Ctc>Ttc	p.L18F	FLAD1_ENST00000368432.1_Intron|FLAD1_ENST00000405236.2_Missense_Mutation_p.L18F|FLAD1_ENST00000487371.1_Intron|FLAD1_ENST00000292180.3_Intron|FLAD1_ENST00000315144.10_Intron|FLAD1_ENST00000368433.1_Intron|FLAD1_ENST00000295530.2_5'UTR	NM_001184892.1	NP_001171821.1	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	0					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TACTGATGGCCTCATCTTCCC	0.567000													13	192					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119582992	119582992	+	Translation_Start_Site	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:119582992G>T	ENST00000361477.3	-	0	2058				ASTN2_ENST00000373996.3_Missense_Mutation_p.S700Y|ASTN2_ENST00000361209.2_Missense_Mutation_p.S653Y|ASTN2_ENST00000313400.4_Missense_Mutation_p.S704Y			O75129	ASTN2_HUMAN	astrotactin 2							integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AAAGCCATCAGAGCAGTCAAT	0.572000													13	73					1.5739e-10	1.82111e-10	1	1	0
AGO4	192670	broad.mit.edu	37	1	36316620	36316620	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:36316620G>A	ENST00000373210.3	+	17	2688	c.2443G>A	c.(2443-2445)Gca>Aca	p.A815T	AGO4_ENST00000488778.1_3'UTR	NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		AGCATTTAGGGCAAGGTATCA	0.428000													8	29					0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12888090	12888090	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:12888090C>T	ENST00000379672.5	+	20	2482	c.2182C>T	c.(2182-2184)Ccc>Tcc	p.P728S	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.P728S|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.P722S	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	728					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.P728S(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CAAATCGCGGCCCACTCCTAA	0.627000													5	47					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167085227	167085227	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:167085227G>A	ENST00000375387.4	-	22	4523	c.4183C>T	c.(4183-4185)Ctt>Ttt	p.L1395F	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.L1394F|SCN9A_ENST00000409672.1_Missense_Mutation_p.L1383F|SCN9A_ENST00000303354.6_Missense_Mutation_p.L1395F			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1394						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AGGTAACCAAGTCCGACATTA	0.353000													12	149					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242141639	242141639	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:242141639G>A	ENST00000274979.8	+	8	908	c.805G>A	c.(805-807)Ggc>Agc	p.G269S	ANO7_ENST00000402430.3_Missense_Mutation_p.G268S	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	269						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GACCCCGTATGGCCACGAGAA	0.607000													14	42					0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36459863	36459863	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:36459863G>C	ENST00000265748.2	+	11	2176	c.1955G>C	c.(1954-1956)cGt>cCt	p.R652P	ANLN_ENST00000396068.2_Missense_Mutation_p.R615P	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	652	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CAAAGAACTCGTGTCCCTCGA	0.443000													23	81					0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100218578	100218578	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:100218578T>A	ENST00000462107.1	-	19	2595	c.2308A>T	c.(2308-2310)Agc>Tgc	p.S770C	TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.S770C|TFR2_ENST00000544242.1_Missense_Mutation_p.S311C			Q9UP52	TFR2_HUMAN	transferrin receptor 2	770					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CGGAAACGGCTCTCCTGGAAG	0.652000													7	14					0	0	1	0	0
ACTL6A	86	broad.mit.edu	37	3	179294442	179294442	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:179294442T>C	ENST00000429709.2	+	7	819	c.606T>C	c.(604-606)atT>atC	p.I202I	ACTL6A_ENST00000467615.1_3'UTR|ACTL6A_ENST00000392662.1_Silent_p.I160I|ACTL6A_ENST00000450518.2_Silent_p.I160I	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	202					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			GAGACTTTATTACTATGCAGT	0.363000													13	126					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167088549	167088549	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:167088549G>A	ENST00000361200.2	+	5	667	c.501G>A	c.(499-501)gcG>gcA	p.A167A	DUSP27_ENST00000443333.1_Silent_p.A167A|DUSP27_ENST00000271385.5_Silent_p.A167A			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	167					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TGAATGCTGCGCATGGCACCG	0.572000													7	60					0	0	1	0	0
OR2H1	26716	broad.mit.edu	37	6	29430310	29430310	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:29430310C>T	ENST00000377136.1	+	4	1229	c.764C>T	c.(763-765)gCt>gTt	p.A255V	OR2H1_ENST00000396792.2_Missense_Mutation_p.A255V|OR2H1_ENST00000442615.1_Missense_Mutation_p.A255V|OR2H1_ENST00000377133.1_Missense_Mutation_p.A255V|OR2H1_ENST00000377132.1_Missense_Mutation_p.A255V|OR2H1_ENST00000473369.1_3'UTR			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						TCAGTCATTGCTGTCTACCTC	0.527000													18	127					0	0	1	0	0
NDRG2	57447	broad.mit.edu	37	14	21486368	21486368	+	Missense_Mutation	SNP	T	T	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:21486368T>G	ENST00000556147.1	-	14	1832	c.892A>C	c.(892-894)Act>Cct	p.T298P	NDRG2_ENST00000350792.3_Missense_Mutation_p.T284P|NDRG2_ENST00000397851.2_Missense_Mutation_p.T298P|NDRG2_ENST00000553503.1_Missense_Mutation_p.T284P|NDRG2_ENST00000554143.1_Missense_Mutation_p.T284P|NDRG2_ENST00000555158.1_Missense_Mutation_p.T284P|NDRG2_ENST00000397853.3_Missense_Mutation_p.T298P|NDRG2_ENST00000397856.3_Missense_Mutation_p.T268P|NDRG2_ENST00000397858.1_Missense_Mutation_p.T298P|NDRG2_ENST00000397844.2_Missense_Mutation_p.T268P|NDRG2_ENST00000298684.5_Missense_Mutation_p.T255P|NDRG2_ENST00000403829.3_Missense_Mutation_p.T294P|NDRG2_ENST00000298687.5_Missense_Mutation_p.T298P|NDRG2_ENST00000397847.2_Missense_Mutation_p.T287P|NDRG2_ENST00000397855.3_Missense_Mutation_p.T255P|NDRG2_ENST00000360463.3_Missense_Mutation_p.T284P|NDRG2_ENST00000554104.1_Missense_Mutation_p.T211P			Q9UN36	NDRG2_HUMAN	NDRG family member 2	298					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CTCACCTGAGTCAGCTGGGGC	0.597000													7	50					0	0	1	0	0
CHCHD6	84303	broad.mit.edu	37	3	126445943	126445943	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:126445943G>T	ENST00000508789.1	+	2	182	c.110G>T	c.(109-111)cGc>cTc	p.R37L	CHCHD6_ENST00000290913.3_Missense_Mutation_p.R37L			Q9BRQ6	CHCH6_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 6	37										endometrium(2)|large_intestine(3)|lung(3)	8						GTGGTGAACCGCATGAAGGAG	0.498000													19	93					1.96292e-10	2.26975e-10	1	1	0
ORC1	4998	broad.mit.edu	37	1	52854939	52854939	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:52854939G>A	ENST00000371568.3	-	7	1355	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	ORC1_ENST00000371566.1_Silent_p.I379I	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	379					cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCTTTCTGCGGATACGATGGG	0.488000													17	70					0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92471200	92471200	+	Missense_Mutation	SNP	T	T	C	rs150434192		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:92471200T>C	ENST00000267622.4	-	11	3493	c.3120A>G	c.(3118-3120)atA>atG	p.I1040M		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1040			I -> V (in dbSNP:rs34805848).		transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TAGTTAAAGATATATTCTTTT	0.323000			T	PDGFRB	AML								9	61					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96026304	96026304	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:96026304G>A	ENST00000297954.4	+	15	3685	c.3685G>A	c.(3685-3687)Gcc>Acc	p.A1229T	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.A841T|WNK2_ENST00000427277.2_Missense_Mutation_p.A841T|WNK2_ENST00000395477.2_Missense_Mutation_p.A1229T			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1229					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CGATGAAATTGCCACGTATAT	0.587000													5	14					0	0	1	0	0
PYGO2	90780	broad.mit.edu	37	1	154931745	154931745	+	Missense_Mutation	SNP	A	A	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:154931745A>C	ENST00000368457.2	-	3	902	c.731T>G	c.(730-732)tTt>tGt	p.F244C	PYGO2_ENST00000368456.1_Missense_Mutation_p.F207C	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	244	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CGGACCAGGAAAGGGACTTGT	0.617000													3	33					0	0	1	0	0
MAPK13	5603	broad.mit.edu	37	6	36106756	36106756	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:36106756T>C	ENST00000211287.4	+	11	1204	c.942T>C	c.(940-942)ccT>ccC	p.P314P	MAPK13_ENST00000373761.6_Silent_p.P304P|MAPK13_ENST00000373766.5_3'UTR|MAPK13_ENST00000373759.1_3'UTR	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	314					cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						TCCGGGACCCTGAGGAAGAGA	0.597000													7	39					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76753582	76753582	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:76753582C>T	ENST00000536229.3	+	1	1901	c.1192C>T	c.(1192-1194)Ccg>Tcg	p.P398S	SALL3_ENST00000537592.2_Missense_Mutation_p.P531S|SALL3_ENST00000575389.2_Missense_Mutation_p.P531S			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	531					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCTGCAACTGCCGCCCACTGT	0.746000													5	11					0	0	1	0	0
POFUT2	23275	broad.mit.edu	37	21	46689866	46689866	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr21:46689866C>A	ENST00000331343.7	-	7	926	c.900G>T	c.(898-900)tgG>tgT	p.W300C	POFUT2_ENST00000349485.5_Missense_Mutation_p.W300C|POFUT2_ENST00000471540.1_5'UTR	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	300					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		GTCTGTGACCCCAGATGAAAT	0.567000													5	60					0.000602214	0.000628893	1	1	0
ARV1	64801	broad.mit.edu	37	1	231124163	231124163	+	Missense_Mutation	SNP	T	T	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:231124163T>G	ENST00000310256.2	+	2	329	c.272T>G	c.(271-273)aTt>aGt	p.I91S	ARV1_ENST00000497753.1_3'UTR|ARV1_ENST00000366658.2_Intron	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	91					sphingolipid metabolic process	integral to membrane				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		TACAGACATATTCTTTTCAAT	0.279000													67	139					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12368513	12368513	+	Silent	SNP	C	C	T	rs141867543		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:12368513C>T	ENST00000358136.3	+	27	6595	c.6465C>T	c.(6463-6465)tgC>tgT	p.C2155C	VPS13D_ENST00000356315.4_Silent_p.C2155C	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2155					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGCTGGATTGCGTTGTCGTGG	0.468000													10	116					0	0	1	0	0
DRGX	644168	broad.mit.edu	37	10	50599298	50599298	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:50599298G>A	ENST00000374139.2	-	2	54	c.44C>T	c.(43-45)aCc>aTc	p.T15I	DRGX_ENST00000434016.1_Missense_Mutation_p.T20I			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	20					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						ATTGCCAAAGGTTGCAGTGCC	0.577000													3	3					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								6	78					0	0	1	0	0
DEGS2	123099	broad.mit.edu	37	14	100613146	100613146	+	Silent	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:100613146G>C	ENST00000305631.5	-	3	1499	c.924C>G	c.(922-924)ccC>ccG	p.P308P	DEGS2_ENST00000553834.1_3'UTR	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN	delta(4)-desaturase, sphingolipid 2	308					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				CCCTGGCATAGGGCCCCAGGG	0.632000													13	80					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9417703	9417703	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:9417703G>A	ENST00000378501.2	+	26	2647	c.2632G>A	c.(2632-2634)Gcc>Acc	p.A878T	PLCB4_ENST00000278655.4_Missense_Mutation_p.A878T|PLCB4_ENST00000378493.1_Missense_Mutation_p.A878T|PLCB4_ENST00000334005.3_Missense_Mutation_p.A878T|PLCB4_ENST00000414679.2_Missense_Mutation_p.A890T|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.A890T	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	878					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GAAAGGAAAGGCCAACACCGC	0.507000													7	39					0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14508934	14508934	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:14508934G>A	ENST00000242786.5	+	9	960	c.880G>A	c.(880-882)Gcc>Acc	p.A294T	CD97_ENST00000357355.3_Missense_Mutation_p.A245T|CD97_ENST00000358600.3_Missense_Mutation_p.A201T	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	294					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GACAAGCTCAGCCGAGGTCAC	0.592000													19	51					0	0	1	0	0
NDUFB11	54539	broad.mit.edu	37	X	47001790	47001790	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:47001790C>T	ENST00000377811.3	-	3	1212	c.388G>A	c.(388-390)Gag>Aag	p.E130K	NDUFB11_ENST00000276062.8_Missense_Mutation_p.E140K	NM_001135998.2	NP_001129470.1	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa	130					respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						CCATTGGCCTCTCGGTATTTC	0.547000													4	18					0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88946070	88946070	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:88946070A>G	ENST00000556564.1	-	13	1989	c.1705T>C	c.(1705-1707)Tac>Cac	p.Y569H	PTPN21_ENST00000328736.3_Missense_Mutation_p.Y569H	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	569	Poly-Pro.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGGGGCGGGTAGGGTGGGGGT	0.687000													3	15					0	0	1	0	0
STT3A	3703	broad.mit.edu	37	11	125483987	125483987	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:125483987G>A	ENST00000392708.4	+	14	1719	c.1560G>A	c.(1558-1560)gcG>gcA	p.A520A	STT3A_ENST00000529196.1_Silent_p.A520A|STT3A_ENST00000531491.1_Silent_p.A428A	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	520					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TTCAGGATGCGAAGGTCATGT	0.398000													38	139					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32598165	32598165	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr21:32598165G>A	ENST00000286827.3	-	8	2157	c.1686C>T	c.(1684-1686)ctC>ctT	p.L562L	TIAM1_ENST00000541036.1_Silent_p.L562L|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	562					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTGATTTCAGGAGTCGGAGCG	0.502000													11	92					0	0	1	0	0
SRMS	6725	broad.mit.edu	37	20	62172589	62172589	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:62172589C>T	ENST00000217188.1	-	7	1280	c.1240G>A	c.(1240-1242)Gtc>Atc	p.V414I		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	414	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			TGCAGCAGGACGCCGAAGGAC	0.617000													24	133					0	0	1	0	0
RPS6KB1	6198	broad.mit.edu	37	17	58011874	58011874	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:58011874C>T	ENST00000225577.4	+	9	880	c.859C>T	c.(859-861)Ctg>Ttg	p.L287L	RPS6KB1_ENST00000443572.2_Silent_p.L264L|RPS6KB1_ENST00000393021.3_Silent_p.L234L|RPS6KB1_ENST00000406116.3_Silent_p.L287L	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	287	Protein kinase.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			GTATGACATGCTGACTGGAGC	0.438000													6	34					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99090069	99090069	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr13:99090069G>A	ENST00000376586.2	+	20	2660	c.2324G>A	c.(2323-2325)cGc>cAc	p.R775H	FARP1_ENST00000319562.6_Intron|FARP1_ENST00000595437.1_Missense_Mutation_p.R775H			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	758	PH 1.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	p.R775H(1)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CAAGCCAGGCGCATCCCATGT	0.498000													23	75					0	0	1	0	0
MSRB2	22921	broad.mit.edu	37	10	23393147	23393147	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:23393147G>A	ENST00000376510.3	+	2	296	c.193G>A	c.(193-195)Gtc>Atc	p.V65I		NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	65					protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	GCAGTTCTACGTCACAAGAGA	0.468000													11	46					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12262608	12262608	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:12262608G>T	ENST00000256194.4	+	18	2524	c.2236G>T	c.(2236-2238)Ggt>Tgt	p.G746C	MICAL2_ENST00000342902.5_Missense_Mutation_p.G746C|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000527546.1_Intron	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	746						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CTCAGGGATAGGTAAGCCGGT	0.572000													9	129					0.00621372	0.00638341	1	1	0
C11orf30	56946	broad.mit.edu	37	11	76256913	76256913	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:76256913G>A	ENST00000529032.1	+	19	3346	c.3346G>A	c.(3346-3348)Gtt>Att	p.V1116I	C11orf30_ENST00000525038.1_Missense_Mutation_p.V1117I|C11orf30_ENST00000334736.3_Missense_Mutation_p.V1116I|C11orf30_ENST00000524767.1_Missense_Mutation_p.V1131I|C11orf30_ENST00000524490.1_Missense_Mutation_p.V1018I|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000533248.1_Missense_Mutation_p.V1025I|C11orf30_ENST00000525919.1_Missense_Mutation_p.V1117I			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1116					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GCCTCCCACAGTTACAAAGAT	0.463000													14	70					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16038020	16038020	+	Splice_Site	SNP	A	A	G	rs140220334		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:16038020A>G	ENST00000326742.7	-	4	527		c.e4+1		CYP4F11_ENST00000248041.7_Splice_Site|CYP4F11_ENST00000402119.3_Splice_Site			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11						inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CAAGGGACTCACGTGCATGAT	0.502000													10	73					0	0	1	0	0
SIDT2	51092	broad.mit.edu	37	11	117064585	117064585	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:117064585G>T	ENST00000324225.4	+	24	2759	c.2228G>T	c.(2227-2229)aGg>aTg	p.R743M	SIDT2_ENST00000532062.1_Missense_Mutation_p.R35M|SIDT2_ENST00000431081.2_Missense_Mutation_p.R740M	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	743						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		AGTGGGGAGAGGATCAAGCTC	0.642000													4	49					0.150653	0.15151	1	1	0
FCGBP	8857	broad.mit.edu	37	19	40363060	40363060	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:40363060C>A	ENST00000221347.6	-	32	15017	c.15010G>T	c.(15010-15012)Gca>Tca	p.A5004S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5004	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGGACGCTGCTGAGCCATTG	0.657000													10	33					0.0581538	0.0587855	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25453294	25453294	+	RNA	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:25453294G>T	ENST00000424208.1	+	0	2384				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-21_ENST00000362963.1_RNA	NR_003305.1																						ATGCTCAATAGGATTACGCTG	0.517000													34	327					6.70999e-13	7.92998e-13	1	1	0
RASA2	5922	broad.mit.edu	37	3	141231020	141231020	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:141231020T>C	ENST00000286364.3	+	2	184	c.149T>C	c.(148-150)tTa>tCa	p.L50S	RASA2_ENST00000452898.1_Missense_Mutation_p.L50S			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	50	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GCAAAAAATTTATTGCCATAT	0.323000													17	58					0	0	1	0	0
INTS8	55656	broad.mit.edu	37	8	95884119	95884119	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:95884119T>C	ENST00000523731.1	+	21	2555	c.2422T>C	c.(2422-2424)Tct>Cct	p.S808P	INTS8_ENST00000447247.1_Missense_Mutation_p.S808P	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	808					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TAGCCTCCAGTCTGTGGACTT	0.343000													4	75					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32735328	32735328	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr13:32735328C>T	ENST00000380250.3	+	17	2328	c.1832C>T	c.(1831-1833)gCt>gTt	p.A611V		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGTGTTGCTGCTATTCCTCGA	0.358000													13	104					0	0	1	0	0
IGFBPL1	347252	broad.mit.edu	37	9	38413248	38413248	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:38413248T>A	ENST00000377694.1	-	3	695	c.673A>T	c.(673-675)Acg>Tcg	p.T225S		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	225	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		ATCCAGGCCGTGGCCTCATGG	0.478000													15	70					0	0	1	0	0
STEAP2	261729	broad.mit.edu	37	7	89854661	89854661	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:89854661A>G	ENST00000287908.3	+	2	658	c.265A>G	c.(265-267)Ata>Gta	p.I89V	STEAP2_ENST00000394632.1_Missense_Mutation_p.I89V|STEAP2_ENST00000402625.2_Missense_Mutation_p.I89V|STEAP2_ENST00000394629.2_Missense_Mutation_p.I89V|STEAP2_ENST00000394622.2_Missense_Mutation_p.I89V|STEAP2_ENST00000394626.1_Missense_Mutation_p.I89V|STEAP2_ENST00000394621.2_Missense_Mutation_p.I89V	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	89					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					AACAAATATAATATTTGTTGC	0.378000													9	141					0	0	1	0	0
RNF26	79102	broad.mit.edu	37	11	119206045	119206045	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:119206045C>T	ENST00000311413.4	+	1	809	c.213C>T	c.(211-213)gcC>gcT	p.A71A		NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	71	Leu-rich.						zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		TGATCGAAGCCGTGGTCCGGT	0.592000													33	161					0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52307401	52307401	+	Silent	SNP	C	C	T	rs55758365		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:52307401C>T	ENST00000550683.1	+	3	515	c.414C>T	c.(412-414)ggC>ggT	p.G138G	ACVRL1_ENST00000419526.2_Intron|ACVRL1_ENST00000388922.4_Silent_p.G124G	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	124					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	TGATCCTGGGCCCCGTGCTGG	0.682000													4	27					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21318723	21318723	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:21318723C>T	ENST00000583088.1	+	3	964	c.69C>T	c.(67-69)gtC>gtT	p.V23V	KCNJ12_ENST00000331718.5_Silent_p.V23V	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		TGCACCTGGTCACCATGTCGG	0.672000										Prostate(3;0.18)			5	52					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20487007	20487007	+	Missense_Mutation	SNP	T	T	G	rs4586421		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:20487007T>G	ENST00000573854.1	+	8	1124	c.1010T>G	c.(1009-1011)gTa>gGa	p.V337G	ACSM2A_ENST00000219054.6_Missense_Mutation_p.V337G|ACSM2A_ENST00000575690.1_Missense_Mutation_p.V337G|ACSM2A_ENST00000536134.1_Missense_Mutation_p.V109G|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Missense_Mutation_p.V258G|ACSM2A_ENST00000396104.2_Missense_Mutation_p.V337G	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	337			V -> G (in dbSNP:rs4586421).		fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGCGTCACTGTAGGGGAGTCC	0.522000													33	238					0	0	1	0	0
SWT1	54823	broad.mit.edu	37	1	185175791	185175791	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:185175791A>T	ENST00000367500.4	+	13	2033	c.1868A>T	c.(1867-1869)cAt>cTt	p.H623L	SWT1_ENST00000367501.3_Missense_Mutation_p.H623L	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	623										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						ACTCTACTACATTTACTACAG	0.308000													14	58					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20139799	20139799	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:20139799C>T	ENST00000396085.1	+	39	7655	c.7294C>T	c.(7294-7296)Ctg>Ttg	p.L2432L	NAV2_ENST00000533917.1_Silent_p.L1493L|NAV2_ENST00000396087.3_Silent_p.L2488L|NAV2_ENST00000349880.4_Silent_p.L2429L|NAV2_ENST00000360655.4_Silent_p.L2365L|NAV2_ENST00000527559.2_Silent_p.L2417L|NAV2_ENST00000311043.8_Silent_p.L1493L|NAV2_ENST00000540292.1_Silent_p.L2419L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2488						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GGAGTCCACTCTGTGACAGGG	0.607000													19	183					0	0	1	0	0
SEC61G	23480	broad.mit.edu	37	7	54823562	54823562	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:54823562A>T	ENST00000415949.1	-	4	473	c.107T>A	c.(106-108)aTt>aAt	p.I36N	SEC61G_ENST00000352861.4_Missense_Mutation_p.I36N|SEC61G_ENST00000450622.1_Missense_Mutation_p.I36N|SEC61G_ENST00000395535.3_Missense_Mutation_p.I36N			P60059	SC61G_HUMAN	Sec61 gamma subunit	36					protein targeting to ER	endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			kidney(1)|lung(5)	6	Esophageal squamous(2;7.55e-08)|Breast(14;0.0654)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)			TGCCATGGCAATCTTCTGGAA	0.318000													10	55					0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8397957	8397957	+	Missense_Mutation	SNP	C	C	T	rs145885405		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:8397957C>T	ENST00000471889.1	+	7	2064	c.1679C>T	c.(1678-1680)cCg>cTg	p.P560L	SLC45A1_ENST00000377479.2_Missense_Mutation_p.P594L|SLC45A1_ENST00000289877.8_Missense_Mutation_p.P560L			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	560					carbohydrate transport	integral to membrane	symporter activity	p.P560Q(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAAGGCCCCGCACACATCA	0.562000													11	117					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171510918	171510918	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:171510918G>T	ENST00000367742.3	+	16	4555	c.4313G>T	c.(4312-4314)cGa>cTa	p.R1438L	PRRC2C_ENST00000426496.2_Missense_Mutation_p.R1436L|PRRC2C_ENST00000338920.4_Missense_Mutation_p.R1436L|PRRC2C_ENST00000392078.3_Missense_Mutation_p.R1438L			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1436	Arg-rich.						protein C-terminus binding										AAGCCACCTCGATTTAGACGG	0.483000													16	75					1.3612e-06	1.49758e-06	1	1	0
SLC6A7	6534	broad.mit.edu	37	5	149580737	149580737	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:149580737G>A	ENST00000230671.2	+	6	1180	c.809G>A	c.(808-810)gGc>gAc	p.G270D	SLC6A7_ENST00000524041.1_Missense_Mutation_p.G270D	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	270						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GCCTGGAAGGGCATCCAGTTC	0.617000													10	72					0	0	1	0	0
XCL1	6375	broad.mit.edu	37	1	168550307	168550307	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:168550307G>T	ENST00000367818.3	+	3	359	c.194G>T	c.(193-195)gGc>gTc	p.G65V		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	65					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					ACCAAACGTGGCCTAAAAGTC	0.468000													15	69					4.7546e-09	5.42682e-09	1	1	0
ZNF202	7753	broad.mit.edu	37	11	123601268	123601268	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:123601268C>T	ENST00000336139.4	-	3	691	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	ZNF202_ENST00000530393.1_Missense_Mutation_p.R110Q|ZNF202_ENST00000529691.1_Missense_Mutation_p.R110Q			O95125	ZN202_HUMAN	zinc finger protein 202	110	SCAN box.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		ACTTTCTGGCCGTTGGCCCCG	0.587000													19	110					0	0	1	0	0
RBMXL1	494115	broad.mit.edu	37	1	89449451	89449451	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:89449451T>C	ENST00000399794.2	-	3	774	c.59A>G	c.(58-60)aAt>aGt	p.N20S	RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.N20S|CCBL2_ENST00000370491.3_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	20	RRM.						nucleotide binding|RNA binding										AGCTTTCTCATTTGTTTCCGT	0.418000											OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	254					0	0	1	0	0
NCDN	23154	broad.mit.edu	37	1	36026477	36026477	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:36026477A>G	ENST00000373243.2	+	3	1108	c.725A>G	c.(724-726)cAg>cGg	p.Q242R	NCDN_ENST00000373253.3_Missense_Mutation_p.Q225R|NCDN_ENST00000356090.4_Missense_Mutation_p.Q242R	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	242					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAGCTCTGCCAGCTGCTGCCC	0.637000													16	77					0	0	1	0	0
TRAV27	28655	broad.mit.edu	37	14	22616471	22616471	+	RNA	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:22616471G>T	ENST00000390457.2	+	0	309																											GTTACGGGTGGAGAAGTGAAG	0.502000													14	53					9.31168e-06	1.00938e-05	1	1	0
SCUBE1	80274	broad.mit.edu	37	22	43715978	43715978	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr22:43715978C>A	ENST00000360835.3	-	3	440	c.314G>T	c.(313-315)gGc>gTc	p.G105V	SCUBE1_ENST00000290460.7_Missense_Mutation_p.G105V	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	105	EGF-like 2; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CAGCATGAAGCCATCAAAGCA	0.532000													15	81					3.27435e-08	3.68495e-08	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113256623	113256623	+	Splice_Site	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:113256623C>G	ENST00000297405.5	-	65	10646	c.10402_splice	c.e65+1	p.A3468_splice	CSMD3_ENST00000343508.3_Splice_Site_p.A3428_splice|CSMD3_ENST00000455883.2_Splice_Site_p.A3299_splice|CSMD3_ENST00000352409.3_Splice_Site_p.A3398_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3468	Sushi 28.					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						GAAAACTTACCTTCACAAATG	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	70					0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38793416	38793416	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:38793416G>A	ENST00000310803.5	-	13	1788	c.1611C>T	c.(1609-1611)ggC>ggT	p.G537G	RASGRP1_ENST00000450598.2_Silent_p.G502G|RASGRP1_ENST00000559830.1_Silent_p.G502G|RASGRP1_ENST00000539159.1_Silent_p.G489G|RASGRP1_ENST00000561180.1_Silent_p.G588G|RASGRP1_ENST00000558164.1_Silent_p.G502G	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	537					cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		GAAAGCCCAGGCCCAGCTTGG	0.527000													4	51					0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50667677	50667677	+	Silent	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:50667677C>A	ENST00000216373.5	-	3	613	c.339G>T	c.(337-339)tcG>tcT	p.S113S	SOS2_ENST00000543680.1_Silent_p.S113S	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	113					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTACCTTCAACGAAGGATGGA	0.338000													39	135					1.17962e-10	1.36669e-10	1	1	0
SYTL2	54843	broad.mit.edu	37	11	85435182	85435182	+	Missense_Mutation	SNP	G	G	A	rs138955193		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:85435182G>A	ENST00000359152.5	-	1	3889	c.3890C>T	c.(3889-3891)tCg>tTg	p.S1297L	SYTL2_ENST00000525423.1_Missense_Mutation_p.S773L|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.S773L|SYTL2_ENST00000316356.4_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	454					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CATATATGGCGATGCTAGAGT	0.378000													17	69					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45523678	45523678	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:45523678A>G	ENST00000361462.2	+	16	4668	c.4485A>G	c.(4483-4485)agA>agG	p.R1495R	FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Silent_p.R1442R			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1442							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CAAAAGGAAGACGATCTCATA	0.338000													12	52					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110461475	110461475	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:110461475G>A	ENST00000260283.4	-	12	1486	c.1202C>T	c.(1201-1203)tCa>tTa	p.S401L	ARHGAP20_ENST00000527598.1_Missense_Mutation_p.S365L|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.S375L|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.S365L|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.S375L|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.S378L	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	401	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CACATTGGCTGATTGCCTGAA	0.373000													7	45					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43277313	43277313	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr21:43277313C>A	ENST00000422911.1	-	4	469	c.368G>T	c.(367-369)tGg>tTg	p.W123L	PRDM15_ENST00000447207.2_Missense_Mutation_p.W86L|PRDM15_ENST00000538201.1_Missense_Mutation_p.W86L|PRDM15_ENST00000269844.3_Missense_Mutation_p.W452L|PRDM15_ENST00000398548.1_Missense_Mutation_p.W123L			P57071	PRD15_HUMAN	PR domain containing 15	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CTCCTTTTCCCATTTGGCGAC	0.557000													16	68					0.0242445	0.0246064	1	1	0
KIF21A	55605	broad.mit.edu	37	12	39726894	39726894	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:39726894G>A	ENST00000395670.3	-	19	2922	c.2503C>T	c.(2503-2505)Cgg>Tgg	p.R835W	KIF21A_ENST00000361961.3_Missense_Mutation_p.R822W|KIF21A_ENST00000544797.2_Missense_Mutation_p.R822W|KIF21A_ENST00000361418.5_Missense_Mutation_p.R835W|KIF21A_ENST00000541463.2_Missense_Mutation_p.R799W			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	835					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTTACTTGCCGACGAAGAGCC	0.448000													26	130					0	0	1	0	0
THBS3	7059	broad.mit.edu	37	1	155177614	155177614	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:155177614G>C	ENST00000368378.3	-	1	74	c.54C>G	c.(52-54)ttC>ttG	p.F18L	THBS3_ENST00000428962.2_Missense_Mutation_p.F18L|THBS3_ENST00000457183.2_Missense_Mutation_p.F18L|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000541990.1_5'UTR	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	18					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGCAGATGTGAAAAAGCAAA	0.592000													7	101					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4824717	4824717	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:4824717T>C	ENST00000380382.1	-	1	1130	c.1131A>G	c.(1129-1131)agA>agG	p.R377R	MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Silent_p.R298R|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTGTTTGGTTCTAACTCCAT	0.478000													26	113					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45899996	45899996	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:45899996C>T	ENST00000418234.2	-	4	597	c.519G>A	c.(517-519)acG>acA	p.T173T	PPP1R13L_ENST00000360957.5_Silent_p.T173T	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	173	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		AGTCGAAAGGCGTGGGGGGAC	0.816000													2	2					0	0	1	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596929	142596929	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:142596929T>C	ENST00000370503.2	-	2	224	c.141A>G	c.(139-141)tcA>tcG	p.S47S	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	47										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGATATTCTGATGTTTTTG	0.378000													27	38					0	0	1	0	0
TBXA2R	6915	broad.mit.edu	37	19	3595672	3595672	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:3595672G>A	ENST00000589966.1	-	2	691	c.657C>T	c.(655-657)agC>agT	p.S219S	TBXA2R_ENST00000375190.4_3'UTR|TBXA2R_ENST00000411851.3_Intron			P21731	TA2R_HUMAN	thromboxane A2 receptor	0					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CGGGAGGGGCGCTCTGTCCAC	0.701000													3	5					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66467664	66467664	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:66467664A>G	ENST00000273854.3	-	3	1205	c.605T>C	c.(604-606)gTa>gCa	p.V202A	EPHA5_ENST00000511294.1_Missense_Mutation_p.V202A|EPHA5_ENST00000432638.2_Missense_Mutation_p.V202A|EPHA5_ENST00000354839.4_Missense_Mutation_p.V202A	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	202					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TAGAGGTCCTACATCTCTGAC	0.388000										TSP Lung(17;0.13)			24	83					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1081648	1081648	+	Splice_Site	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:1081648G>T	ENST00000441003.2	+	13	1603		c.e13-1		MUC2_ENST00000359061.5_Splice_Site	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming							inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGGCCCCTCAGGCCTCTGCGG	0.677000													7	19					1.06961e-07	1.19537e-07	1	1	0
STAT4	6775	broad.mit.edu	37	2	191931188	191931188	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:191931188C>T	ENST00000392320.2	-	7	912	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	STAT4_ENST00000358470.4_Missense_Mutation_p.E200K	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	200					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TTAAGCATTTCCTGCAGTGTC	0.363000													5	36					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28914165	28914165	+	Splice_Site	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:28914165G>T	ENST00000257192.4	+	8	1217	c.1005_splice	c.e8+1	p.K335_splice		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	335	Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGGTTGTTAAGGTATGGTATA	0.269000													12	54					0.00010058	0.000106866	1	1	0
BTNL8	79908	broad.mit.edu	37	5	180338442	180338442	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:180338442G>A	ENST00000231229.4	+	3	735	c.501G>A	c.(499-501)tgG>tgA	p.W167*	BTNL8_ENST00000340184.4_Nonsense_Mutation_p.W167*|BTNL8_ENST00000511704.1_Nonsense_Mutation_p.W51*|BTNL8_ENST00000508408.1_Nonsense_Mutation_p.W167*|BTNL8_ENST00000400707.3_Nonsense_Mutation_p.W42*|BTNL8_ENST00000533815.2_5'UTR|BTNL8_ENST00000505126.1_5'UTR	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	167	Ig-like V-type 2.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCGAAGTGGAAAGGTCCAC	0.532000													52	198					0	0	1	0	0
CD48	962	broad.mit.edu	37	1	160654839	160654839	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:160654839T>A	ENST00000368045.3	-	2	262	c.223A>T	c.(223-225)Aag>Tag	p.K75*	CD48_ENST00000368046.3_Nonsense_Mutation_p.K75*			P09326	CD48_HUMAN	CD48 molecule	75	Ig-like C2-type 1.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TCAAAGTACTTAGATTTTCTG	0.428000													17	145					0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220153472	220153472	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:220153472T>C	ENST00000366923.3	-	26	3935	c.3666A>G	c.(3664-3666)acA>acG	p.T1222T		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1222	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CTATTGTAGTTGTATAGTCTC	0.408000													51	195					0	0	1	0	0
PET112	5188	broad.mit.edu	37	4	152679922	152679922	+	Splice_Site	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:152679922A>G	ENST00000263985.6	-	2	368		c.e2+1		PET112_ENST00000508611.1_Splice_Site|PET112_ENST00000512306.1_Splice_Site|PET112_ENST00000515812.1_Splice_Site	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN	PET112 homolog (yeast)							mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TAAGAATCTTACCGGCAAAGT	0.303000													10	98					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13830717	13830717	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:13830717C>T	ENST00000265104.4	-	36	6154	c.6050G>A	c.(6049-6051)cGg>cAg	p.R2017Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2017	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R2017Q(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTAAAAATCCGTCCAAGTCC	0.393000									Kartagener syndrome				13	54					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152631900	152631900	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:152631900C>G	ENST00000367255.5	-	88	17420	c.16819G>C	c.(16819-16821)Gca>Cca	p.A5607P	SYNE1_ENST00000341594.5_Missense_Mutation_p.A5219P|SYNE1_ENST00000356820.4_Missense_Mutation_p.A131P|SYNE1_ENST00000448038.1_Missense_Mutation_p.A5536P|SYNE1_ENST00000265368.4_Missense_Mutation_p.A5607P|SYNE1_ENST00000423061.1_Missense_Mutation_p.A5536P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5607					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCCAGTTCTGCCACTTGCTGA	0.408000										HNSCC(10;0.0054)			4	43					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281516	152281516	+	Missense_Mutation	SNP	T	T	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:152281516T>G	ENST00000368799.1	-	3	5881	c.5846A>C	c.(5845-5847)cAg>cCg	p.Q1949P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1949	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCTCTTGACTGCTCCCAAGC	0.562000									Ichthyosis				192	613					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32915277	32915277	+	Missense_Mutation	SNP	T	T	C	rs80358904		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr13:32915277T>C	ENST00000544455.1	+	11	7012	c.6785T>C	c.(6784-6786)aTg>aCg	p.M2262T	BRCA2_ENST00000380152.3_Missense_Mutation_p.M2262T	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2262					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AATGAGGAAATGGTTTTGTCA	0.363000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			15	138					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25444485	25444485	+	RNA	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:25444485G>T	ENST00000424208.1	+	0	1758				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						GCCCACCCTGGTGTGCTGAAG	0.622000													14	93					1.41608e-15	1.69737e-15	1	1	0
METTL17	64745	broad.mit.edu	37	14	21462766	21462766	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:21462766A>G	ENST00000339374.6	+	8	995	c.762A>G	c.(760-762)tcA>tcG	p.S254S	METTL17_ENST00000556670.2_Silent_p.S254S|METTL17_ENST00000382985.4_Silent_p.S254S	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	254					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						TACCTGTATCACCCAAGGCAA	0.448000													12	110					0	0	1	0	0
FGF18	8817	broad.mit.edu	37	5	170876252	170876252	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:170876252G>T	ENST00000274625.5	+	4	896	c.352G>T	c.(352-354)Ggg>Tgg	p.G118W		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	118					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGCTCGTGGGGAAGGTGAG	0.562000													14	61					1.05317e-09	1.20909e-09	1	1	0
ITGAE	3682	broad.mit.edu	37	17	3635676	3635676	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:3635676G>T	ENST00000263087.4	-	22	2838	c.2740C>A	c.(2740-2742)Ctc>Atc	p.L914I	ITGAE_ENST00000571185.1_5'UTR	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	914					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GACCTCTTGAGGACGGGGTGA	0.517000													20	83					2.39187e-15	2.86506e-15	1	1	0
OTOF	9381	broad.mit.edu	37	2	26781545	26781545	+	Translation_Start_Site	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:26781545C>A	ENST00000272371.2	-	0	21				OTOF_ENST00000403946.3_5'UTR	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin						cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCCTCCTCCTCCTCCCGAC	0.677000													4	23					0.150653	0.15151	1	1	0
CCDC40	55036	broad.mit.edu	37	17	78063585	78063585	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:78063585A>T	ENST00000397545.4	+	17	2761	c.2734A>T	c.(2734-2736)Aaa>Taa	p.K912*	CCDC40_ENST00000573903.1_3'UTR|CCDC40_ENST00000374877.3_Nonsense_Mutation_p.K912*	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	912					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCTTTGGGAGAAAAAAATCCA	0.483000													13	62					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125103712	125103712	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:125103712C>T	ENST00000522917.1	+	34	4646	c.4440C>T	c.(4438-4440)ctC>ctT	p.L1480L	FER1L6_ENST00000399018.1_Silent_p.L1480L|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1480						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCGAAATCCTCACTAAGCTCT	0.458000													17	103					0	0	1	0	0
LPIN3	64900	broad.mit.edu	37	20	39987444	39987444	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:39987444T>C	ENST00000373257.3	+	20	2585	c.2494T>C	c.(2494-2496)Tac>Cac	p.Y832H	LPIN3_ENST00000491528.1_3'UTR	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	832					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CAACCCTGAATACAGTAACTT	0.637000													24	125					0	0	1	0	0
SLC24A5	283652	broad.mit.edu	37	15	48414181	48414181	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:48414181A>G	ENST00000482911.2	+	2	290	c.249A>G	c.(247-249)atA>atG	p.I83M	SLC24A5_ENST00000449382.2_Intron|SLC24A5_ENST00000341459.3_Missense_Mutation_p.I83M			Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	83					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TCATGGCCATATCTATTGTCT	0.453000													12	132					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89720683	89720683	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:89720683C>G	ENST00000371953.3	+	8	2191	c.834C>G	c.(832-834)ttC>ttG	p.F278L	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	278	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.F279fs*19(1)|p.W274_F341del(1)|p.T277fs*13(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TAAATACATTCTTCATACCAG	0.289000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			4	31					0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100246286	100246286	+	Splice_Site	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:100246286C>A	ENST00000160382.5	-	7	669		c.e7-1			NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B						chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTGACGATGCCTAGAAGGAAG	0.592000													8	37					5.18039e-06	5.63974e-06	1	1	0
VAV3	10451	broad.mit.edu	37	1	108313263	108313263	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:108313263C>G	ENST00000370056.4	-	6	917	c.643G>C	c.(643-645)Gaa>Caa	p.E215Q	VAV3_ENST00000371846.4_Missense_Mutation_p.E150Q|VAV3_ENST00000527011.1_Missense_Mutation_p.E215Q|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	215	DH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CTTACCTTTTCTATTGACTCC	0.318000													8	74					0	0	1	0	0
FKBP2	2286	broad.mit.edu	37	11	64009911	64009911	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:64009911G>A	ENST00000394540.3	+	2	522	c.52G>A	c.(52-54)Gcc>Acc	p.A18T	FKBP2_ENST00000449942.2_Missense_Mutation_p.A18T|FKBP2_ENST00000309366.4_Missense_Mutation_p.A18T	NM_057092.2	NP_476433.1	P26885	FKBP2_HUMAN	FK506 binding protein 2, 13kDa	18					protein folding	endoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			endometrium(2)|lung(3)	5						CTGCCTGAGCGCCGTGGCCAC	0.642000													14	57					0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	977178	977178	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:977178G>T	ENST00000448903.2	+	5	698	c.557G>T	c.(556-558)gGc>gTc	p.G186V	AP2A2_ENST00000332231.5_Missense_Mutation_p.G186V|AP2A2_ENST00000534328.1_Missense_Mutation_p.G186V	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	186					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		GTCCCCATGGGCGACTGGACA	0.602000													10	34					1.76689e-08	2.0012e-08	1	1	0
LRRC7	57554	broad.mit.edu	37	1	70541765	70541765	+	Silent	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:70541765C>A	ENST00000310961.5	+	24	4414	c.3996C>A	c.(3994-3996)ggC>ggA	p.G1332G	LRRC7_ENST00000415775.2_Silent_p.G658G|LRRC7_ENST00000035383.5_Silent_p.G1374G			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1374						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CACAGGCAGGCAGCCACATCC	0.483000													13	44					0.00010058	0.000106866	1	1	0
CROCCP3	114819	broad.mit.edu	37	1	16816184	16816184	+	RNA	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:16816184C>G	ENST00000263511.4	-	0	1155					NR_023386.1																						CCTCACCTCTCGGTGAACATC	0.547000													5	27					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210545492	210545492	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:210545492A>G	ENST00000360351.4	+	6	901	c.395A>G	c.(394-396)aAt>aGt	p.N132S	MAP2_ENST00000199940.6_Missense_Mutation_p.N132S|MAP2_ENST00000361559.4_Missense_Mutation_p.N132S|MAP2_ENST00000447185.1_Missense_Mutation_p.N132S|MAP2_ENST00000392194.1_Missense_Mutation_p.N132S	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	132					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.N132S(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GAAACAGCTAATCTGCCTCCT	0.423000													48	173					0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5411543	5411543	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:5411543C>T	ENST00000328611.3	+	1	937	c.915C>T	c.(913-915)agC>agT	p.S305S	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	305						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATATACAGCATTAAGACCA	0.468000													7	20					0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54606942	54606942	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:54606942A>G	ENST00000371330.1	-	3	1439	c.592T>C	c.(592-594)Tgc>Cgc	p.C198R	RP11-446E24.4_ENST00000525949.1_5'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	198	CUB 2.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						TCATAGGTGCACTCTTCATTG	0.657000													7	43					0	0	1	0	0
KIF3A	11127	broad.mit.edu	37	5	132051609	132051609	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:132051609C>T	ENST00000378746.4	-	8	1187	c.969G>A	c.(967-969)ggG>ggA	p.G323G	KIF3A_ENST00000403231.1_Silent_p.G323G|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000378735.1_Silent_p.G323G	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	323	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATCTGCTGGCCCAATATTTG	0.284000													8	15					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16526153	16526153	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:16526153G>T	ENST00000311331.7	-	6	2138	c.2047C>A	c.(2047-2049)Ctt>Att	p.L683I		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	683					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGCACGGTAAGCTGTGATGTA	0.383000													13	130					0.00010058	0.000106866	1	1	0
MLLT1	4298	broad.mit.edu	37	19	6262268	6262268	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:6262268T>C	ENST00000252674.7	-	3	410	c.247A>G	c.(247-249)Atg>Gtg	p.M83V		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	83	YEATS.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						TCGATGGGCATGATGAAGCCA	0.562000			T	MLL	AL								11	50					0	0	1	0	0
CARHSP1	23589	broad.mit.edu	37	16	8949174	8949174	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:8949174C>T	ENST00000396593.2	-	4	650	c.291G>A	c.(289-291)ggG>ggA	p.G97G	RP11-77H9.2_ENST00000565934.1_RNA|CARHSP1_ENST00000567554.1_Silent_p.G97G|CARHSP1_ENST00000561530.1_Silent_p.G97G|CARHSP1_ENST00000311052.5_Silent_p.G97G	NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3	NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2	Q9Y2V2	CHSP1_HUMAN	calcium regulated heat stable protein 1, 24kDa	97	CSD.				intracellular signal transduction|regulation of mRNA stability|regulation of transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|P granule	DNA binding|mRNA 3'-UTR binding|phosphatase binding			endometrium(2)|lung(1)	3						GGACATACTCCCCTTCCACAC	0.572000													14	58					0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52505473	52505473	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:52505473C>A	ENST00000602063.1	-	4	426	c.77G>T	c.(76-78)aGc>aTc	p.S26I	ZNF615_ENST00000597747.1_Missense_Mutation_p.S26I|ZNF615_ENST00000376716.5_Missense_Mutation_p.S26I|ZNF615_ENST00000598071.1_Missense_Mutation_p.S26I|ZNF615_ENST00000594083.1_Missense_Mutation_p.S26I|ZNF615_ENST00000391795.3_Missense_Mutation_p.S31I			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	26	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CTGAGCAGGGCTCAGGAACTG	0.527000													35	194					3.90053e-15	4.66585e-15	1	1	0
ARNTL	406	broad.mit.edu	37	11	13380012	13380012	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:13380012C>T	ENST00000389708.3	+	8	608	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	ARNTL_ENST00000401424.1_Missense_Mutation_p.R42W|ARNTL_ENST00000497429.1_3'UTR|ARNTL_ENST00000403482.3_Missense_Mutation_p.R83W|ARNTL_ENST00000403510.3_Missense_Mutation_p.R42W|ARNTL_ENST00000389707.4_Missense_Mutation_p.R85W|ARNTL_ENST00000361003.4_Missense_Mutation_p.R85W|ARNTL_ENST00000403290.1_Missense_Mutation_p.R85W|ARNTL_ENST00000396441.3_Missense_Mutation_p.R85W			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	85					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		AAAGCGGCGTCGGGATAAAAT	0.363000													20	148					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196774853	196774853	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:196774853C>G	ENST00000312428.6	-	25	4102	c.4002G>C	c.(4000-4002)aaG>aaC	p.K1334N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1334	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAGTTTCAGTCTTCCCAGTGC	0.418000													4	45					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81719564	81719564	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:81719564T>C	ENST00000550584.2	-	21	2929	c.2634A>G	c.(2632-2634)ctA>ctG	p.L878L	PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000548586.1_Silent_p.L878L|PPFIA2_ENST00000333447.7_Silent_p.L860L|PPFIA2_ENST00000550359.2_Silent_p.L725L|PPFIA2_ENST00000443686.3_Silent_p.L779L|PPFIA2_ENST00000407050.4_Silent_p.L804L|PPFIA2_ENST00000552948.1_Silent_p.L878L|PPFIA2_ENST00000541570.2_Silent_p.L445L|PPFIA2_ENST00000549325.1_Silent_p.L860L|PPFIA2_ENST00000549396.1_Silent_p.L878L|PPFIA2_ENST00000541017.1_Silent_p.L95L	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	804										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ACTTTTTCTTTAGTCTTCGAT	0.393000													4	23					0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36050968	36050968	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:36050968C>T	ENST00000262623.3	-	7	823	c.795G>A	c.(793-795)gtG>gtA	p.V265V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	265			V -> A (in dbSNP:rs2733743).		ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CCAGGCCCTGCACGGTGCCTG	0.657000													5	61					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123066637	123066637	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:123066637G>A	ENST00000462833.1	-	3	2610	c.1398C>T	c.(1396-1398)gaC>gaT	p.D466D	ADCY5_ENST00000309879.5_Silent_p.D116D|ADCY5_ENST00000491190.1_Silent_p.D99D	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	466					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		ACCTCACGTTGTCATGTTTCT	0.532000													21	223					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11023018	11023018	+	Silent	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:11023018G>C	ENST00000304623.8	-	17	3051	c.2862C>G	c.(2860-2862)gcC>gcG	p.A954A	CTNND2_ENST00000503622.1_Silent_p.A617A|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.A863A|CTNND2_ENST00000458100.2_Silent_p.A521A|CTNND2_ENST00000359640.2_Silent_p.A896A	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	954					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CATCCGACATGGCCTTGCTTG	0.517000													19	58					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184763	130184763	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:130184763C>T	ENST00000422113.2	-	2	886	c.560G>A	c.(559-561)gGg>gAg	p.G187E		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	187						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCCCAGGTCCCCCTGCAGCCG	0.701000													7	30					0	0	1	0	0
DCTD	1635	broad.mit.edu	37	4	183814234	183814234	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:183814234G>A	ENST00000438320.2	-	5	698	c.408C>T	c.(406-408)gaC>gaT	p.D136D	DCTD_ENST00000510370.1_Silent_p.D136D|DCTD_ENST00000357067.3_Silent_p.D147D	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	136					nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)		CAGTTGCCTCGTCACTATCAT	0.507000													8	21					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50863176	50863176	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:50863176C>T	ENST00000395562.2	+	13	1893	c.1424C>T	c.(1423-1425)gCg>gTg	p.A475V	CHAT_ENST00000455728.2_Missense_Mutation_p.A439V|CHAT_ENST00000337653.2_Missense_Mutation_p.A557V|CHAT_ENST00000339797.1_Missense_Mutation_p.A439V|CHAT_ENST00000351556.3_Missense_Mutation_p.A439V|CHAT_ENST00000395559.2_Missense_Mutation_p.A439V	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	557					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.A557V(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TACGAGAGCGCGTCCATCCGC	0.547000													20	78					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175289	140175289	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:140175289A>T	ENST00000526136.1	+	1	740	c.740A>T	c.(739-741)tAc>tTc	p.Y247F	PCDHA2_ENST00000378132.1_Missense_Mutation_p.Y247F|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.Y247F	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATCAGTTTACAAAGTAAAA	0.408000													21	119					0	0	1	0	0
TUBA1B	10376	broad.mit.edu	37	12	49521764	49521764	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:49521764C>G	ENST00000336023.5	-	4	1427	c.1333G>C	c.(1333-1335)Gag>Cag	p.E445Q	RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	445					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						CCTTCTTCCTCACCCTCTCCT	0.488000													29	154					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63530048	63530048	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:63530048G>A	ENST00000536984.2	+	11	2453	c.1759G>A	c.(1759-1761)Gct>Act	p.A587T	CDH7_ENST00000323011.3_Missense_Mutation_p.A587T|CDH7_ENST00000397968.2_Missense_Mutation_p.A587T			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	587	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TGACTGTGATGCTGACGGCGT	0.527000													9	48					0	0	1	0	0
C11orf42	160298	broad.mit.edu	37	11	6231614	6231614	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:6231614C>T	ENST00000316375.2	+	2	657	c.607C>T	c.(607-609)Cag>Tag	p.Q203*		NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	203										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTTTCACTGCAGTCTAAGGG	0.597000													9	144					0	0	1	0	0
LZTS2	84445	broad.mit.edu	37	10	102766534	102766534	+	Missense_Mutation	SNP	C	C	T	rs146774639		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:102766534C>T	ENST00000370220.1	+	4	4682	c.1619C>T	c.(1618-1620)cCc>cTc	p.P540L	LZTS2_ENST00000370223.3_Missense_Mutation_p.P540L			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	540	Sufficient for interaction with CTNNB1.|Sufficient for interaction with KATNB1 and for inhibition of katanin-mediated microtubule severing (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CTCCGGGAGCCCCCTGTGCCA	0.682000													4	15					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118199092	118199092	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:118199092G>A	ENST00000425217.1	-	4	677	c.623C>T	c.(622-624)cCg>cTg	p.P208L	KSR2_ENST00000339824.5_Missense_Mutation_p.P237L	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	237	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGCGGGGGCGGGCACAAGCC	0.716000													10	41					0	0	1	0	0
PAX5	5079	broad.mit.edu	37	9	36966713	36966713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:36966713C>A	ENST00000358127.4	-	6	687	c.613G>T	c.(613-615)Gag>Tag	p.E205*	PAX5_ENST00000523145.1_Nonsense_Mutation_p.E97*|PAX5_ENST00000414447.1_Nonsense_Mutation_p.E162*|PAX5_ENST00000520281.1_Nonsense_Mutation_p.E162*|PAX5_ENST00000446742.1_Nonsense_Mutation_p.E139*|PAX5_ENST00000520154.1_Nonsense_Mutation_p.E205*|PAX5_ENST00000377852.2_Nonsense_Mutation_p.E205*|PAX5_ENST00000522003.1_Nonsense_Mutation_p.E97*|PAX5_ENST00000377847.2_Nonsense_Mutation_p.E205*|PAX5_ENST00000377853.2_Nonsense_Mutation_p.E205*|PAX5_ENST00000523241.1_Nonsense_Mutation_p.E205*	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	205					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(41)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		ACCGGAGACTCCTGAATACCT	0.557000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								11	46					0.00010058	0.000106866	1	1	0
PPARGC1B	133522	broad.mit.edu	37	5	149216095	149216095	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:149216095G>T	ENST00000309241.5	+	8	2109	c.2077G>T	c.(2077-2079)Gac>Tac	p.D693Y	PPARGC1B_ENST00000403750.1_Missense_Mutation_p.D629Y|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.D693Y|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.D654Y	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	693					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGGAGACCATGACTACTGCCA	0.632000													12	81					2.27111e-07	2.52377e-07	1	1	0
NPEPL1	79716	broad.mit.edu	37	20	57288530	57288530	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:57288530C>T	ENST00000356091.6	+	9	1344	c.1056C>T	c.(1054-1056)ggC>ggT	p.G352G	NPEPL1_ENST00000525967.1_Silent_p.G324G|NPEPL1_ENST00000525817.1_Silent_p.G304G|STX16-NPEPL1_ENST00000530122.1_3'UTR	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	352					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			TGGCAGATGGCGTGTCCTATG	0.627000													4	11					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560034	44560034	+	Silent	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:44560034G>T	ENST00000332567.4	-	1	1954	c.1602C>A	c.(1600-1602)gcC>gcA	p.A534A	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	534	Activation domain (By similarity).|Interacting with Elongin BC complex (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TAAGCACCTGGGCACACTGCT	0.622000													22	91					8.10497e-08	9.08086e-08	1	1	0
FAM222B	55731	broad.mit.edu	37	17	27085555	27085555	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:27085555C>T	ENST00000341217.5	-	3	1637	c.1422G>A	c.(1420-1422)ccG>ccA	p.P474P	FAM222B_ENST00000452648.3_Silent_p.P474P|FAM222B_ENST00000581407.1_Silent_p.P474P|FAM222B_ENST00000582266.1_3'UTR	NM_018182.2	NP_060652.2	Q8WU58	CQ063_HUMAN	family with sequence similarity 222, member B	474																	CACCGTGGAACGGCATGGCAA	0.647000													8	59					0	0	1	0	0
RRP15	51018	broad.mit.edu	37	1	218458671	218458671	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:218458671G>T	ENST00000366932.3	+	1	43	c.13G>T	c.(13-15)Gct>Tct	p.A5S		NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	5						mitochondrion|nucleolus	protein binding	p.A5S(1)	ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		GGCAGCCGCCGCTCCGGACTC	0.542000													24	69					1.1804e-14	1.4101e-14	1	1	0
MAP3K19	80122	broad.mit.edu	37	2	135738536	135738536	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:135738536C>G	ENST00000375845.3	-	9	3805	c.3775G>C	c.(3775-3777)Gag>Cag	p.E1259Q	MAP3K19_ENST00000392917.3_Missense_Mutation_p.E391Q|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000358371.4_Missense_Mutation_p.E1146Q|MAP3K19_ENST00000392918.3_Missense_Mutation_p.E393Q|MAP3K19_ENST00000375844.3_Missense_Mutation_p.E441Q|MAP3K19_ENST00000315513.3_Missense_Mutation_p.E120Q	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		GTAGCCATCTCAAACACAGTA	0.522000													22	70					0	0	1	0	0
NBPF9	400818	broad.mit.edu	37	1	144814685	144814685	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:144814685A>G	ENST00000440491.2	+	3	323	c.323A>G	c.(322-324)tAt>tGt	p.Y108C	NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.Y108C|NBPF9_ENST00000468645.1_3'UTR	NM_001037675.2	NP_001032764.1			neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						CTTAGGCAATATAAAGTCCTG	0.473000													80	201					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104898397	104898397	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:104898397G>A	ENST00000507740.1	+	2	1230	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	RIMS2_ENST00000406091.3_Missense_Mutation_p.E524K|RIMS2_ENST00000436393.2_Missense_Mutation_p.E302K|RIMS2_ENST00000262231.10_Missense_Mutation_p.E332K	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	555					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTCCACGCCTGAATATACAAG	0.403000										HNSCC(12;0.0054)			5	55					0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76256841	76256841	+	Splice_Site	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:76256841G>A	ENST00000529032.1	+	19	3274	c.3273_splice	c.e19-1	p.V1092_splice	C11orf30_ENST00000525038.1_Splice_Site_p.V1093_splice|C11orf30_ENST00000334736.3_Splice_Site_p.V1092_splice|C11orf30_ENST00000524767.1_Splice_Site_p.V1107_splice|C11orf30_ENST00000524490.1_Splice_Site_p.V994_splice|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000533248.1_Splice_Site_p.V1001_splice|C11orf30_ENST00000525919.1_Splice_Site_p.V1093_splice			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1092	Gln-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TTATTTTCAGGTGGAGCAGCC	0.423000													15	109					0	0	1	0	0
LNPEP	4012	broad.mit.edu	37	5	96328758	96328758	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:96328758C>G	ENST00000231368.5	+	5	1863	c.1171C>G	c.(1171-1173)Cat>Gat	p.H391D	LNPEP_ENST00000395770.3_Missense_Mutation_p.H377D	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	391					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TGGTCAAGTTCATTATGCCTT	0.333000													11	105					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79054745	79054745	+	Splice_Site	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:79054745G>A	ENST00000388820.4	-	23	5113	c.4903_splice	c.e23+1	p.R1635_splice		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1635	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGGGACTCACGGGGAGGCTCG	0.667000													3	5					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42489231	42489231	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:42489231T>A	ENST00000545399.1	-	8	1024	c.871A>T	c.(871-873)Att>Ttt	p.I291F	ATP1A3_ENST00000602133.1_Missense_Mutation_p.I248F|ATP1A3_ENST00000543770.1_Missense_Mutation_p.I289F|ATP1A3_ENST00000302102.5_Missense_Mutation_p.I278F	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	278					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AAGTGCTCAATCTCGATGGCG	0.622000													11	36					0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148835512	148835512	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:148835512T>C	ENST00000367467.3	+	9	1257	c.782T>C	c.(781-783)tTa>tCa	p.L261S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	261							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TTTAAGAGGTTACACAAGCTG	0.383000													8	48					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511822	61511822	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:61511822G>A	ENST00000266070.4	-	16	5811	c.5486C>T	c.(5485-5487)tCt>tTt	p.S1829F	DIDO1_ENST00000395343.1_Missense_Mutation_p.S1829F	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1829	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ACCAAGGTAAGAGGGTGAGGG	0.602000													10	109					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85517926	85517926	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:85517926A>G	ENST00000393217.2	+	17	3697	c.3636A>G	c.(3634-3636)cgA>cgG	p.R1212R		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1212										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CTGAATACCGACATGCACACG	0.373000													5	84					0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105664879	105664879	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:105664879G>T	ENST00000542731.1	+	15	2237	c.2129G>T	c.(2128-2130)tGg>tTg	p.W710L	CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000478080.1_Missense_Mutation_p.W622L|CDHR3_ENST00000317716.9_Missense_Mutation_p.W710L|CDHR3_ENST00000343407.5_Missense_Mutation_p.M212I			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	710					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CCATCTGCATGGTACGTGCCG	0.527000													13	40					1.5842e-08	1.79773e-08	1	1	0
CFH	3075	broad.mit.edu	37	1	196645129	196645129	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:196645129C>T	ENST00000367429.4	+	4	601	c.361C>T	c.(361-363)Cta>Tta	p.L121L	CFH_ENST00000439155.2_Silent_p.L121L|CFH_ENST00000359637.2_Silent_p.L121L	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	121	Sushi 2.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GTATCAATTGCTAGGTGAGAT	0.343000													16	89					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49559343	49559343	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:49559343G>T	ENST00000561648.1	-	6	3693	c.3640C>A	c.(3640-3642)Ctc>Atc	p.L1214I	ZNF423_ENST00000535559.1_Missense_Mutation_p.L1097I|ZNF423_ENST00000563137.2_Missense_Mutation_p.L1154I|ZNF423_ENST00000562520.1_Missense_Mutation_p.L1154I|ZNF423_ENST00000262383.2_Missense_Mutation_p.L1214I|ZNF423_ENST00000567169.1_Missense_Mutation_p.L1097I|ZNF423_ENST00000562871.1_Missense_Mutation_p.L1154I	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1214					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.L1214I(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				AGGTGACAGAGGAGCTTGGCC	0.572000													4	59					0.014758	0.0149955	1	1	0
SF3A1	10291	broad.mit.edu	37	22	30735012	30735012	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr22:30735012A>G	ENST00000439242.1	-	11	1445	c.1314T>C	c.(1312-1314)gaT>gaC	p.D438D	SF3A1_ENST00000215793.7_Silent_p.D503D	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	503					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CTGAGTGGCCATCCCAGGTCA	0.577000													35	127					0	0	1	0	0
CCDC64	92558	broad.mit.edu	37	12	120530904	120530904	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:120530904G>A	ENST00000397558.2	+	9	1661	c.1661G>A	c.(1660-1662)cGg>cAg	p.R554Q	CCDC64_ENST00000546857.1_3'UTR|CCDC64_ENST00000446727.2_Missense_Mutation_p.R225Q|CCDC64_ENST00000257583.4_Missense_Mutation_p.R251Q	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	554					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCGCTGGGCGGGGGGATGAG	0.587000													9	40					0	0	1	0	0
RIT1	6016	broad.mit.edu	37	1	155870379	155870379	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:155870379G>A	ENST00000368323.3	-	6	664	c.460C>T	c.(460-462)Cga>Tga	p.R154*	RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000368322.3_Nonsense_Mutation_p.R171*|RIT1_ENST00000539040.1_Nonsense_Mutation_p.R118*	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	154					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CTGAATTCTCGGGCCAAGGCC	0.413000													37	135					0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47637430	47637430	+	Missense_Mutation	SNP	G	G	T	rs63750705		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:47637430G>T	ENST00000406134.1	+	3	626	c.564G>T	c.(562-564)gaG>gaT	p.E188D	MSH2_ENST00000233146.2_Missense_Mutation_p.E188D|MSH2_ENST00000543555.1_Missense_Mutation_p.E122D			P43246	MSH2_HUMAN	mutS homolog 2	188					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCAATCTTGAGGCTCTCCTCA	0.468000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				43	160					6.5261e-18	7.90284e-18	1	1	0
RNF112	7732	broad.mit.edu	37	17	19318606	19318606	+	Nonsense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:19318606C>G	ENST00000461366.1	+	12	1519	c.1304C>G	c.(1303-1305)tCa>tGa	p.S435*		NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	435							GTP binding|GTPase activity|zinc ion binding	p.S436*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CAGAACCTCTCAGGATGGATG	0.627000													3	22					0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50157971	50157971	+	Silent	SNP	T	T	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:50157971T>G	ENST00000360565.3	+	9	3586	c.3462T>G	c.(3460-3462)tcT>tcG	p.S1154S		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1154					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TGCCCACCTCTTTGGGTCTGC	0.667000													14	124					0	0	1	0	0
OR52I1	390037	broad.mit.edu	37	11	4615649	4615649	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:4615649T>C	ENST00000450052.2	+	2	453	c.453T>C	c.(451-453)taT>taC	p.Y151Y	OR52I1_ENST00000530443.2_Silent_p.Y127Y			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGACCGCTATGTAGCCATCT	0.498000													4	51					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2092607	2092607	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:2092607C>T	ENST00000262113.4	+	37	4241	c.4100C>T	c.(4099-4101)aCg>aTg	p.T1367M	MYOM2_ENST00000523438.1_Missense_Mutation_p.T792M|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1367	Ig-like C2-type 5.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTGACCTGCACGGTGTTTGGA	0.542000													16	89					0	0	1	0	0
SLC25A41	284427	broad.mit.edu	37	19	6432077	6432077	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:6432077C>T	ENST00000321510.6	-	2	414	c.346G>A	c.(346-348)Gcc>Acc	p.A116T		NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	116					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						TACACCTTGGCTCTGTCCAGA	0.607000													10	47					0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115578013	115578013	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:115578013C>A	ENST00000371900.4	+	7	984	c.896C>A	c.(895-897)gCc>gAc	p.A299D		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	299					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.A299D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TATATTGGAGCCCAGTCAAAT	0.378000													16	34					1.5739e-10	1.82111e-10	1	1	0
GZMK	3003	broad.mit.edu	37	5	54327397	54327397	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:54327397A>G	ENST00000231009.2	+	4	639	c.569A>G	c.(568-570)gAc>gGc	p.D190G	CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	190	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TACAACGGCGACCCTTTTATC	0.463000													19	79					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179643651	179643651	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:179643651T>C	ENST00000589042.1	-	24	4382	c.4158A>G	c.(4156-4158)ccA>ccG	p.P1386P	TTN_ENST00000460472.2_Silent_p.P1340P|TTN_ENST00000360870.5_Silent_p.P1386P|TTN_ENST00000342992.6_Silent_p.P1386P|TTN_ENST00000359218.5_Silent_p.P1340P|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000591111.1_Silent_p.P1386P|TTN_ENST00000342175.6_Silent_p.P1340P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1386							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGCTCCAAGTGGTGCAGCAG	0.393000													18	45					0	0	1	0	0
LLGL1	3996	broad.mit.edu	37	17	18137461	18137461	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:18137461G>A	ENST00000316843.4	+	6	782	c.686G>A	c.(685-687)tGt>tAt	p.C229Y		NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	229					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GCCTCGCAGTGTGTGGACCAC	0.632000													4	19					0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5841995	5841995	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:5841995G>C	ENST00000317037.2	+	1	452	c.430G>C	c.(430-432)Gcc>Ccc	p.A144P	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCTGTCATCGCCAAGGCTGG	0.572000													16	115					0	0	1	0	0
TIGD3	220359	broad.mit.edu	37	11	65123347	65123347	+	Missense_Mutation	SNP	T	T	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:65123347T>G	ENST00000309880.5	+	2	275	c.68T>G	c.(67-69)cTc>cGc	p.L23R		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	23	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						GTGCTGGAACTCCTGGATGAG	0.612000													11	75					0	0	1	0	0
PKNOX2	63876	broad.mit.edu	37	11	125255570	125255570	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:125255570A>G	ENST00000298282.9	+	6	622	c.351A>G	c.(349-351)gaA>gaG	p.E117E	PKNOX2_ENST00000542175.1_Silent_p.E53E|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	117						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		ACCAGCAGGAACAGGAGCACA	0.547000													15	57					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15710451	15710451	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:15710451A>T	ENST00000281171.4	+	16	2951	c.2621A>T	c.(2620-2622)tAc>tTc	p.Y874F	PTPRO_ENST00000445537.2_Missense_Mutation_p.Y63F|PTPRO_ENST00000442921.2_Missense_Mutation_p.Y63F|PTPRO_ENST00000348962.2_Missense_Mutation_p.Y874F|PTPRO_ENST00000544244.1_Missense_Mutation_p.Y63F|PTPRO_ENST00000542557.1_Missense_Mutation_p.Y63F	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	874						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AAGCTTCCATACAACTGGTGA	0.398000													16	41					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38981297	38981297	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:38981297G>A	ENST00000355481.4	+	37	6183	c.6052G>A	c.(6052-6054)Gag>Aag	p.E2018K	RYR1_ENST00000359596.3_Missense_Mutation_p.E2018K|RYR1_ENST00000360985.3_Missense_Mutation_p.E2018K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2018	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGGTACAGATGAGGAAGACTG	0.463000													7	83					0	0	1	0	0
ZNF41	7592	broad.mit.edu	37	X	47307415	47307415	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:47307415C>A	ENST00000377065.4	-	5	2393	c.1754G>T	c.(1753-1755)gGg>gTg	p.G585V	ZNF41_ENST00000397050.2_Missense_Mutation_p.G595V|ZNF41_ENST00000313116.7_Missense_Mutation_p.G585V	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	627						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GAAGGCTTTCCCGCAGTCCTT	0.458000													11	20					6.40141e-05	6.84262e-05	1	1	0
OR51A4	401666	broad.mit.edu	37	11	4967713	4967713	+	Silent	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:4967713G>C	ENST00000380373.2	-	1	643	c.618C>G	c.(616-618)ctC>ctG	p.L206L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATAAGGCAGAGTGCTCCAA	0.428000													14	51					0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53270802	53270802	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:53270802G>A	ENST00000338230.3	-	3	474	c.207C>T	c.(205-207)agC>agT	p.S69S		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	69					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		GTTGGTCTGTGCTACCAGTCA	0.373000													57	260					0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62672644	62672644	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:62672644T>A	ENST00000498273.1	+	3	639	c.344T>A	c.(343-345)aTg>aAg	p.M115K		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	115										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						aaaacagggatggtagggaaa	0.338000													12	91					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136926361	136926361	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:136926361C>T	ENST00000359015.4	-	19	3025	c.2665G>A	c.(2665-2667)Gca>Aca	p.A889T	MAP3K5_ENST00000355845.4_Missense_Mutation_p.A136T	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	889	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AACATAGCTGCTTGTGGTTCT	0.403000													11	101					0	0	1	0	0
FNDC7	163479	broad.mit.edu	37	1	109265169	109265169	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:109265169G>A	ENST00000370017.3	+	5	1088	c.811G>A	c.(811-813)Gat>Aat	p.D271N	FNDC7_ENST00000271311.2_Missense_Mutation_p.D272N	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	272	Fibronectin type-III 3.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		AGCAAGTAATGATGCTGGATC	0.463000													10	43					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	978154	978154	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:978154C>G	ENST00000537687.1	+	9	3905	c.3262C>G	c.(3262-3264)Ctg>Gtg	p.L1088V	WNK1_ENST00000535572.1_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.L1173V|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.L387V	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	836					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTTTATCCATCTGCCTCAGAC	0.493000													27	376					0	0	1	0	0
CEP85L	387119	broad.mit.edu	37	6	118812918	118812918	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:118812918T>C	ENST00000368491.3	-	6	1989	c.1368A>G	c.(1366-1368)ttA>ttG	p.L456L	CEP85L_ENST00000360290.3_Silent_p.L354L|CEP85L_ENST00000392500.3_Silent_p.L459L|CEP85L_ENST00000368488.5_Silent_p.L459L|CEP85L_ENST00000419517.2_Silent_p.L456L	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	456						centrosome											CATTAAGCTGTAAAACTTCTT	0.363000													8	24					0	0	1	0	0
KCNC4	3749	broad.mit.edu	37	1	110766161	110766161	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:110766161C>T	ENST00000369787.3	+	2	1281	c.1254C>T	c.(1252-1254)acC>acT	p.T418T	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Silent_p.T418T|KCNC4_ENST00000438661.2_Silent_p.T418T	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	418					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		ATGACCACACCGACTTCAAGA	0.587000													40	121					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559327	140559327	+	Missense_Mutation	SNP	C	C	A	rs141057693		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:140559327C>A	ENST00000239444.2	+	1	1957	c.1712C>A	c.(1711-1713)gCg>gAg	p.A571E		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		571	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGGCTCCGCGCCCTGCACC	0.716000													17	131					1.22574e-08	1.39185e-08	1	1	0
GLT8D2	83468	broad.mit.edu	37	12	104397070	104397070	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:104397070T>A	ENST00000360814.4	-	5	532	c.127A>T	c.(127-129)Act>Tct	p.T43S	GLT8D2_ENST00000548660.1_Missense_Mutation_p.T43S|GLT8D2_ENST00000546436.1_Missense_Mutation_p.T43S	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	43						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TCTTCAGGAGTCTCGGATTCA	0.458000													13	79					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810474	106810474	+	Silent	SNP	T	T	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:106810474T>G	ENST00000526355.1	-	4	1386	c.918A>C	c.(916-918)ccA>ccC	p.P306P	GUCY1A2_ENST00000347596.2_Silent_p.P306P|GUCY1A2_ENST00000282249.2_Silent_p.P306P	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	306					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		AGGTTCCCTGTGGAAGGTTCT	0.433000													16	60					0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130910640	130910640	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:130910640C>T	ENST00000409031.1	-	19	3395	c.2247G>A	c.(2245-2247)agG>agA	p.R749R	SMPD4_ENST00000443958.2_Silent_p.R413R|SMPD4_ENST00000453750.1_Silent_p.R498R|SMPD4_ENST00000431183.2_Silent_p.R647R|SMPD4_ENST00000452225.2_Silent_p.R490R|SMPD4_ENST00000339679.7_Silent_p.R607R|SMPD4_ENST00000351288.6_Silent_p.R720R|SMPD4_ENST00000426662.2_Silent_p.R385R	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	710					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CAGACGACAGCCTAAAGAGTG	0.602000													29	102					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176661389	176661389	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:176661389C>T	ENST00000367662.3	+	6	3723	c.2559C>T	c.(2557-2559)atC>atT	p.I853I		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	853					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTATGGTCATCGGACAGACCA	0.522000													24	212					0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209961960	209961960	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:209961960G>A	ENST00000367021.3	-	9	1381	c.1209C>T	c.(1207-1209)taC>taT	p.Y403Y	IRF6_ENST00000542854.1_Silent_p.Y308Y	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	403					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		AAAACATCTCGTAGATCATCC	0.463000										HNSCC(57;0.16)			7	61					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46352037	46352037	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:46352037T>C	ENST00000245934.7	-	6	641	c.397A>G	c.(397-399)Atg>Gtg	p.M133V		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	133					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		AGCTGGGTCATGGTGAGGATA	0.527000													8	81					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104433006	104433006	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:104433006C>A	ENST00000361820.3	-	3	2288	c.1688G>T	c.(1687-1689)aGc>aTc	p.S563I		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	563					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ATCATTACTGCTATGGAGGCT	0.448000													12	76					6.40141e-05	6.84262e-05	1	1	0
NTSR2	23620	broad.mit.edu	37	2	11802128	11802128	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:11802128C>T	ENST00000306928.5	-	2	897	c.863G>A	c.(862-864)cGg>cAg	p.R288Q		NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN	neurotensin receptor 2	288					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GCTGCGGATCCGGCGCACGTC	0.567000													25	133					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94436524	94436524	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:94436524G>T	ENST00000282020.4	+	13	2413	c.2155G>T	c.(2155-2157)Gag>Tag	p.E719*	GRID2_ENST00000510992.1_Nonsense_Mutation_p.E624*	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	719					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CAATGGATCGGAGAACAATGT	0.473000													12	68					9.31168e-06	1.00938e-05	1	1	0
PABPC5	140886	broad.mit.edu	37	X	90690956	90690956	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:90690956C>T	ENST00000312600.3	+	2	594	c.380C>T	c.(379-381)tCt>tTt	p.S127F	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	127	RRM 2.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						TACTTATTTTCTGCTTTTGGG	0.443000													23	48					0	0	1	0	0
GNAQ	2776	broad.mit.edu	37	9	80336356	80336356	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:80336356G>T	ENST00000286548.4	-	7	1185	c.963C>A	c.(961-963)gaC>gaA	p.D321E	GNAQ_ENST00000397476.3_Missense_Mutation_p.D119E	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	321					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						AGATAATTTTGTCACTGTCTG	0.527000			Mis		uveal melanoma								27	59					4.59853e-10	5.30346e-10	1	1	0
GNPTAB	79158	broad.mit.edu	37	12	102158576	102158576	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:102158576C>T	ENST00000299314.7	-	13	2381	c.2119G>A	c.(2119-2121)Gcc>Acc	p.A707T		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	707					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CTCAACTGGGCGTCTTTTGGA	0.428000													21	60					0	0	1	0	0
PTPN23	25930	broad.mit.edu	37	3	47453843	47453843	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:47453843G>A	ENST00000265562.4	+	23	4326	c.4249G>A	c.(4249-4251)Gga>Aga	p.G1417R	PTPN23_ENST00000431726.1_Missense_Mutation_p.G1291R	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1417	Tyrosine-protein phosphatase.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCTGGGAACGGAATCCCTGA	0.637000													19	61					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68189569	68189569	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:68189569T>A	ENST00000262215.3	-	8	1540	c.1151A>T	c.(1150-1152)tAt>tTt	p.Y384F		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	384					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GGATGGTGTATATGCAACAGA	0.408000													7	69					0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769102	247769102	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:247769102G>A	ENST00000320002.2	+	1	247	c.215G>A	c.(214-216)tGc>tAc	p.C72Y	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTGGACATCTGCTTCACTACT	0.438000													54	395					0	0	1	0	0
DHRS12	79758	broad.mit.edu	37	13	52351196	52351196	+	Splice_Site	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr13:52351196C>T	ENST00000218981.1	-	5	474	c.363_splice	c.e5+1	p.V121_splice	DHRS12_ENST00000280056.2_Splice_Site_p.V121_splice|DHRS12_ENST00000490949.1_5'UTR|DHRS12_ENST00000444610.2_Splice_Site_p.V170_splice	NM_024705.2	NP_078981.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	170							binding|oxidoreductase activity			cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		GTCAACTCACCACTCGGGGGT	0.562000													5	50					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23757371	23757371	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:23757371T>A	ENST00000546136.1	-	8	1077	c.1075A>T	c.(1075-1077)Acc>Tcc	p.T359S	SOX5_ENST00000451604.2_Missense_Mutation_p.T372S|SOX5_ENST00000545921.1_Missense_Mutation_p.T362S|SOX5_ENST00000537393.1_Missense_Mutation_p.T337S|SOX5_ENST00000309359.1_Missense_Mutation_p.T359S|SOX5_ENST00000541536.1_Missense_Mutation_p.T359S|SOX5_ENST00000381381.2_Missense_Mutation_p.T359S			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	372					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TGAATGCTGGTAGGAGATACA	0.498000													23	68					0	0	1	0	0
KAZALD1	81621	broad.mit.edu	37	10	102824324	102824324	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:102824324G>C	ENST00000370200.5	+	4	1065	c.739G>C	c.(739-741)Gat>Cat	p.D247H		NM_030929.4	NP_112191.2	Q96I82	KAZD1_HUMAN	Kazal-type serine peptidase inhibitor domain 1	247	Ig-like C2-type.				cell differentiation|multicellular organismal development|ossification|regulation of cell growth		insulin-like growth factor binding			endometrium(1)|ovary(1)|prostate(2)	4				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		GCGTCCCAGTGATGAGGGCAC	0.597000													6	43					0	0	1	0	0
LRRC8A	56262	broad.mit.edu	37	9	131671401	131671401	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:131671401A>G	ENST00000259324.5	+	3	2481	c.1958A>G	c.(1957-1959)tAc>tGc	p.Y653C	LRRC8A_ENST00000372599.3_Missense_Mutation_p.Y653C|LRRC8A_ENST00000372600.4_Missense_Mutation_p.Y653C	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	653					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CACATCGCCTACATCCCCATC	0.562000													10	65					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	662963	662963	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:662963T>C	ENST00000266383.5	+	14	1887	c.1874T>C	c.(1873-1875)gTa>gCa	p.V625A		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	625						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TTCGAGTACGTACCTGTGTTT	0.562000													6	117					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30921994	30921994	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:30921994G>A	ENST00000597505.1	-	31	4552	c.4553C>T	c.(4552-4554)tCc>tTc	p.S1518F	DCDC1_ENST00000339794.5_Missense_Mutation_p.S597F|DCDC1_ENST00000406071.2_Missense_Mutation_p.S256F			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAAACTATCGGATGTCACAGA	0.358000													3	6					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900842	51900842	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:51900842C>A	ENST00000268919.4	+	1	604	c.448C>A	c.(448-450)Ctc>Atc	p.L150I		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	150					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTCTCCCTGCCTCTGGGAAAT	0.567000													17	102					1.99824e-07	2.22474e-07	1	1	0
CUEDC1	404093	broad.mit.edu	37	17	55956981	55956981	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:55956981G>A	ENST00000577830.1	-	3	868	c.455C>T	c.(454-456)cCg>cTg	p.P152L	CUEDC1_ENST00000407144.2_Missense_Mutation_p.P152L|CUEDC1_ENST00000577840.1_Missense_Mutation_p.P15L|CUEDC1_ENST00000360238.2_Missense_Mutation_p.P152L	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	152	Pro-rich.									endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						CCGGGGAGGCGGAGTCGGGGG	0.607000													9	64					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20144722	20144722	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:20144722C>A	ENST00000245957.5	+	11	1131	c.1055C>A	c.(1054-1056)aCt>aAt	p.T352N	C20orf26_ENST00000451767.2_Missense_Mutation_p.T352N|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.T352N	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	352										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GACATCTCCACTGGATATGCA	0.532000													13	76					4.93089e-13	5.83131e-13	1	1	0
FBXW2	26190	broad.mit.edu	37	9	123538385	123538385	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:123538385C>T	ENST00000373926.3	-	5	992	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	FBXW2_ENST00000493559.1_5'UTR|FBXW2_ENST00000340778.5_Missense_Mutation_p.E204K	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	269					proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						GTGACCCATTCCGTGTGCCCG	0.502000													19	135					0	0	1	0	0
CASKIN1	57524	broad.mit.edu	37	16	2237002	2237002	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:2237002C>A	ENST00000343516.6	-	9	999	c.907G>T	c.(907-909)Gtg>Ttg	p.V303L		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	303	SH3.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CCTGCCTTCACGTTGAGGCTG	0.652000													43	70					3.86236e-30	4.72244e-30	1	1	0
PRSS35	167681	broad.mit.edu	37	6	84233331	84233331	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:84233331G>T	ENST00000536636.1	+	3	516	c.171G>T	c.(169-171)atG>atT	p.M57I	PRSS35_ENST00000369700.3_Missense_Mutation_p.M57I	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	57					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CTAAGATGATGGTAAATACAG	0.453000													17	102					4.14922e-12	4.88729e-12	1	1	0
POLR3C	10623	broad.mit.edu	37	1	145601802	145601802	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:145601802G>A	ENST00000334163.3	-	6	889	c.729C>T	c.(727-729)caC>caT	p.H243H	POLR3C_ENST00000369294.1_Silent_p.H243H|POLR3C_ENST00000471254.1_5'UTR	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	243			H -> R (in dbSNP:rs1044697).		innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GGAAGTGTTGGTGGAATCTGT	0.448000													12	153					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232551291	232551291	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:232551291C>T	ENST00000366630.1	-	18	5069	c.4711G>A	c.(4711-4713)Gcc>Acc	p.A1571T	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A1571T|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.A645T			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1571					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AACCCTGTGGCTGTGTCCGGG	0.542000													23	137					0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47637431	47637431	+	Missense_Mutation	SNP	G	G	T	rs63750088		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:47637431G>T	ENST00000406134.1	+	3	627	c.565G>T	c.(565-567)Gct>Tct	p.A189S	MSH2_ENST00000233146.2_Missense_Mutation_p.A189S|MSH2_ENST00000543555.1_Missense_Mutation_p.A123S			P43246	MSH2_HUMAN	mutS homolog 2	189					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAATCTTGAGGCTCTCCTCAT	0.468000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				43	160					6.5261e-18	7.90284e-18	1	1	0
ZKSCAN7	55888	broad.mit.edu	37	3	44612320	44612320	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:44612320A>G	ENST00000273320.3	+	6	2147	c.1718A>G	c.(1717-1719)cAt>cGt	p.H573R	RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.H573R|ZKSCAN7_ENST00000341840.3_Intron	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		CAGAGCCTCCATACTGGGGAA	0.443000													27	57					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333260	70333260	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:70333260C>G	ENST00000338508.4	-	32	3140	c.3141G>C	c.(3139-3141)aaG>aaC	p.K1047N	SHANK2_ENST00000449833.2_Missense_Mutation_p.K451N|SHANK2_ENST00000409161.1_Missense_Mutation_p.K450N|SHANK2_ENST00000423696.2_Missense_Mutation_p.K667N			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	667					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCTGGCTGCTCTTGCCGCTGC	0.657000													13	102					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53652124	53652124	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:53652124G>A	ENST00000342160.3	-	17	2042	c.1585C>T	c.(1585-1587)Cga>Tga	p.R529*	HUWE1_ENST00000218328.8_Nonsense_Mutation_p.R529*|HUWE1_ENST00000262854.6_Nonsense_Mutation_p.R529*			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	529					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATACCATGTCGTATGCCATCT	0.413000													8	50					0	0	1	0	0
MSMP	692094	broad.mit.edu	37	9	35754007	35754007	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:35754007G>T	ENST00000436428.2	-	1	259	c.120C>A	c.(118-120)ttC>ttA	p.F40L	MSMP_ENST00000414286.1_Intron|RGP1_ENST00000378078.4_3'UTR	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated	40						extracellular region				endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						CTTGAGCTTGGAAGTAGCACT	0.562000													52	299					1.70205e-38	2.0854e-38	1	1	0
SLC8A3	6547	broad.mit.edu	37	14	70515592	70515592	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:70515592T>C	ENST00000381269.2	-	7	3052	c.2299A>G	c.(2299-2301)Atg>Gtg	p.M767V	SLC8A3_ENST00000356921.2_Missense_Mutation_p.M761V|SLC8A3_ENST00000533541.1_Missense_Mutation_p.M124V|SLC8A3_ENST00000394330.2_Missense_Mutation_p.M124V|SLC8A3_ENST00000216568.7_Missense_Mutation_p.M138V|SLC8A3_ENST00000357887.3_Missense_Mutation_p.M765V|SLC8A3_ENST00000534137.1_Missense_Mutation_p.M764V|SLC8A3_ENST00000528359.1_Missense_Mutation_p.M765V	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	767					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GCGGTGAGCATGCCAATGATG	0.572000													3	31					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52564029	52564029	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:52564029G>A	ENST00000261839.7	-	7	924	c.763C>T	c.(763-765)Cga>Tga	p.R255*	MYO5C_ENST00000443683.2_Nonsense_Mutation_p.R198*|MYO5C_ENST00000541028.1_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	255	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TGGTAATTTCGTTCATTTTCC	0.368000													3	34					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181727910	181727910	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:181727910G>A	ENST00000526775.1	+	31	4619	c.4454G>A	c.(4453-4455)tGt>tAt	p.C1485Y	CACNA1E_ENST00000367573.2_Missense_Mutation_p.C1504Y|CACNA1E_ENST00000358338.5_Missense_Mutation_p.C1436Y|CACNA1E_ENST00000357570.5_Missense_Mutation_p.C1455Y|CACNA1E_ENST00000360108.3_Missense_Mutation_p.C1485Y|CACNA1E_ENST00000367567.4_Missense_Mutation_p.C1111Y|CACNA1E_ENST00000367570.1_Missense_Mutation_p.C1504Y	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1504					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCTGCTCCCTGTACCTATGAG	0.458000													8	90					0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135376383	135376383	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:135376383G>A	ENST00000354042.4	-	12	1920	c.1231C>T	c.(1231-1233)Cgt>Tgt	p.R411C	C7orf73_ENST00000422968.1_3'UTR	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	411						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GCATCAGTACGGTAGCCTTTC	0.493000													8	40					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32134433	32134433	+	Nonsense_Mutation	SNP	G	G	T	rs142732528		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:32134433G>T	ENST00000312561.4	+	4	958	c.544G>T	c.(544-546)Gga>Tga	p.G182*	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		AGCTTACCAAGGAAATCAGGG	0.428000													14	102					2.61681e-11	3.04778e-11	1	1	0
FLG	2312	broad.mit.edu	37	1	152282654	152282654	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:152282654T>C	ENST00000368799.1	-	3	4743	c.4708A>G	c.(4708-4710)Agc>Ggc	p.S1570G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1570	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCTAGAGCTGCCGGCCCGA	0.582000									Ichthyosis				82	472					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50563060	50563060	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:50563060C>A	ENST00000444124.2	-	9	1132	c.932G>T	c.(931-933)tGt>tTt	p.C311F	DDC_ENST00000431062.1_Missense_Mutation_p.C218F|DDC_ENST00000357936.5_Missense_Mutation_p.C311F|DDC_ENST00000380984.4_Missense_Mutation_p.C311F|DDC_ENST00000426377.1_Missense_Mutation_p.C233F	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	311					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CATGGCAGAACAGTCAAAATT	0.428000													6	35					2.0095e-06	2.20123e-06	1	1	0
SEPT6	23157	broad.mit.edu	37	X	118786856	118786856	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:118786856C>A	ENST00000394610.1	-	4	753	c.489G>T	c.(487-489)aaG>aaT	p.K163N	SEPT6_ENST00000343984.5_Missense_Mutation_p.K163N|SEPT6_ENST00000394617.2_Missense_Mutation_p.K193N|SEPT6_ENST00000354416.3_Missense_Mutation_p.K163N|SEPT6_ENST00000394616.4_Missense_Mutation_p.K105N|SEPT6_ENST00000489216.1_Missense_Mutation_p.K163N|SEPT6_ENST00000354228.4_Missense_Mutation_p.K163N|SEPT6_ENST00000360156.7_Missense_Mutation_p.K163N	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	163					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GGTCCAGAGACTTCAGGGAAT	0.522000			T	MLL	AML								11	34					3.86212e-05	4.14083e-05	1	1	0
PTCD3	55037	broad.mit.edu	37	2	86346107	86346107	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:86346107C>T	ENST00000254630.7	+	7	544	c.478C>T	c.(478-480)Cga>Tga	p.R160*	PTCD3_ENST00000465560.1_3'UTR|PTCD3_ENST00000409277.3_Intron	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	160						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						CCTGAAGGAACGAATTGAGCT	0.423000													37	106					0	0	1	0	0
KRTAP10-11	386678	broad.mit.edu	37	21	46067128	46067128	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr21:46067128G>A	ENST00000334670.8	+	1	798	c.753G>A	c.(751-753)gtG>gtA	p.V251V	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN	keratin associated protein 10-11	245	25 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CCTGCTGTGTGCCCGTCTCCT	0.701000													11	128					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107849966	107849966	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:107849966A>T	ENST00000379028.3	-	12	1444	c.974T>A	c.(973-975)tTg>tAg	p.L325*	NRCAM_ENST00000413765.2_Nonsense_Mutation_p.L306*|NRCAM_ENST00000379022.4_Nonsense_Mutation_p.L325*|NRCAM_ENST00000379024.4_Nonsense_Mutation_p.L306*|NRCAM_ENST00000351718.4_Nonsense_Mutation_p.L319*|NRCAM_ENST00000425651.2_Nonsense_Mutation_p.L325*			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	325	Ig-like 3.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AATGATCTGCAAGGTTTTCTC	0.373000													18	95					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50168579	50168579	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:50168579C>A	ENST00000284509.6	-	25	3064	c.2923G>T	c.(2923-2925)Ggg>Tgg	p.G975W	ATP8B4_ENST00000559829.1_Missense_Mutation_p.G975W	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	975					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TAAAAGGCCCCATAGGGGATG	0.443000													21	69					3.08376e-08	3.48154e-08	1	1	0
HOXA6	3203	broad.mit.edu	37	7	27187138	27187138	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:27187138C>T	ENST00000222728.3	-	1	255	c.231G>A	c.(229-231)tcG>tcA	p.S77S	HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000521231.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA6_ENST00000521478.1_5'UTR|HOXA3_ENST00000467897.2_Intron	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	77						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						AATAGAAACACGAGGCCCCGT	0.612000													4	64					0	0	1	0	0
HBB	3043	broad.mit.edu	37	11	5247950	5247950	+	Missense_Mutation	SNP	T	T	A	rs33988732		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:5247950T>A	ENST00000335295.3	-	2	347	c.172A>T	c.(172-174)Aac>Tac	p.N58Y		NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	58			N -> K (in G-ferrara; unstable).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	ACCTTAGGGTTGCCCATAACA	0.542000									Sickle Cell Trait				15	128					0	0	1	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35921730	35921730	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:35921730T>C	ENST00000325722.3	-	10	1774	c.1540A>G	c.(1540-1542)Acc>Gcc	p.T514A	KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	514	PKD 3.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGGGGCAGGGTGATCACTTGG	0.532000													40	140					0	0	1	0	0
PRPF3	9129	broad.mit.edu	37	1	150307579	150307579	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:150307579C>T	ENST00000324862.6	+	7	1067	c.902C>T	c.(901-903)cCa>cTa	p.P301L	PRPF3_ENST00000543398.1_Missense_Mutation_p.P166L|PRPF3_ENST00000414970.2_Missense_Mutation_p.P252L|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	301					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		AAGGAAAAGCCATCAGAAGAC	0.473000													4	69					0	0	1	0	0
TTC13	79573	broad.mit.edu	37	1	231060717	231060717	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:231060717T>A	ENST00000366661.4	-	14	1598	c.1591A>T	c.(1591-1593)Atg>Ttg	p.M531L	TTC13_ENST00000414259.1_Missense_Mutation_p.M478L|TTC13_ENST00000366662.4_Missense_Mutation_p.M478L	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	531							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		GCCAAACCCATAGCTACGAGA	0.463000													20	141					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46659283	46659283	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:46659283G>A	ENST00000544460.1	+	1	3672	c.3418G>A	c.(3418-3420)Gaa>Aaa	p.E1140K	TDRD6_ENST00000316081.6_Missense_Mutation_p.E1140K	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1140					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			ACTGATTATAGAACTATATGG	0.333000													35	103					0	0	1	0	0
CD44	960	broad.mit.edu	37	11	35231559	35231559	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:35231559G>A	ENST00000428726.2	+	13	1687	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K	CD44_ENST00000433892.2_Missense_Mutation_p.E273K|CD44_ENST00000434472.2_Intron|CD44_ENST00000415148.2_Missense_Mutation_p.E479K|CD44_ENST00000360158.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.E479K|CD44_ENST00000437706.2_Missense_Mutation_p.E522K|CD44_ENST00000263398.6_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000433354.2_Intron|CD44_ENST00000352818.4_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	522	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	AGGCTTGGAAGAAGATAAAGA	0.378000													11	267					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1807625	1807625	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:1807625C>T	ENST00000340107.4	+	13	2056	c.1800C>T	c.(1798-1800)gcC>gcT	p.A600A	FGFR3_ENST00000412135.2_Silent_p.A486A|FGFR3_ENST00000352904.1_Silent_p.A486A|FGFR3_ENST00000260795.2_Silent_p.A598A|FGFR3_ENST00000481110.2_Silent_p.A599A|FGFR3_ENST00000440486.2_Silent_p.A598A	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	598	Protein kinase.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TGTCCTGTGCCTACCAGGTGG	0.682000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				11	133					0	0	1	0	0
OPTC	26254	broad.mit.edu	37	1	203472809	203472809	+	Nonsense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:203472809C>G	ENST00000367222.2	+	7	1076	c.960C>G	c.(958-960)taC>taG	p.Y320*		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	320						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			CCAGCGCCTACTTCTGCCTGC	0.627000													19	143					0	0	1	0	0
ZNF282	8427	broad.mit.edu	37	7	148910865	148910865	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:148910865G>A	ENST00000262085.3	+	7	1244	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	ZNF282_ENST00000479907.1_Missense_Mutation_p.R380H	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	380					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		TGGGGACCACGCGACTCAATG	0.527000													6	41					0	0	1	0	0
ENY2	56943	broad.mit.edu	37	8	110348394	110348394	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:110348394C>T	ENST00000521688.1	+	2	189	c.44C>T	c.(43-45)gCg>gTg	p.A15V	ENY2_ENST00000522407.1_Intron|ENY2_ENST00000520147.1_Missense_Mutation_p.A10V|ENY2_ENST00000521662.1_Missense_Mutation_p.A10V	NM_001193557.1|NM_020189.5	NP_001180486.1|NP_064574.1	Q9NPA8	ENY2_HUMAN	enhancer of yellow 2 homolog (Drosophila)	15					histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity			endometrium(2)|large_intestine(1)|lung(1)	4	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			ATGAGAGCAGCGATTAACCAA	0.348000													5	31					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101636983	101636983	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:101636983C>G	ENST00000342239.3	-	17	4822	c.4731G>C	c.(4729-4731)gaG>gaC	p.E1577D	DNMBP_ENST00000540316.1_Missense_Mutation_p.E489D|DNMBP_ENST00000324109.4_Missense_Mutation_p.E1553D|DNMBP_ENST00000543621.1_Missense_Mutation_p.E799D			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1553					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CTAACCACCACTCTGTATTTC	0.498000													22	70					0	0	1	0	0
IGSF8	93185	broad.mit.edu	37	1	160062768	160062768	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:160062768G>A	ENST00000368086.1	-	4	1474	c.1258C>T	c.(1258-1260)Cgt>Tgt	p.R420C	IGSF8_ENST00000314485.7_Missense_Mutation_p.R420C			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	420	Ig-like C2-type 3.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCTGCTTCACGAAGCCGGGTC	0.652000													12	42					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42912146	42912146	+	Silent	SNP	G	G	A	rs142745694	by1000genomes	TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:42912146G>A	ENST00000244289.4	-	4	1914	c.1638C>T	c.(1636-1638)acC>acT	p.T546T	LIPE-AS1_ENST00000593491.2_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	546					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CTTCCATCTCGGTGATGTTCC	0.607000													6	40					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51223676	51223676	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:51223676C>T	ENST00000245441.5	-	18	4262	c.4072G>A	c.(4072-4074)Gaa>Aaa	p.E1358K	NIN_ENST00000382043.4_Intron|NIN_ENST00000382041.3_Missense_Mutation_p.E1358K|NIN_ENST00000530997.2_Missense_Mutation_p.E1358K|NIN_ENST00000389868.3_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.E1358K|NIN_ENST00000324330.9_Missense_Mutation_p.E1358K	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1358					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ccatcaggttcgatttccagg	0.463000			T	PDGFRB	MPD								4	28					0	0	1	0	0
OR5C1	392391	broad.mit.edu	37	9	125552142	125552142	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:125552142C>T	ENST00000373680.2	+	1	993	c.931C>T	c.(931-933)Cga>Tga	p.R311*		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						GACCTGGAGCCGATTCCACTG	0.602000													6	57					0	0	1	0	0
A1BG	1	broad.mit.edu	37	19	58863777	58863777	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:58863777G>A	ENST00000263100.3	-	4	546	c.485C>T	c.(484-486)cCt>cTt	p.P162L	CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000593374.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	162	Ig-like V-type 2.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CTGGGCCTCAGGCACCTCCAG	0.627000													10	169					0	0	1	0	0
ZBTB4	57659	broad.mit.edu	37	17	7365426	7365426	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:7365426C>T	ENST00000311403.4	-	4	3214	c.2875G>A	c.(2875-2877)Ggg>Agg	p.G959R	ZBTB4_ENST00000380599.4_Missense_Mutation_p.G959R	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	959					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GGAAGGGCCCCCGCACCCTTC	0.607000													54	225					0	0	1	0	0
KIRREL	55243	broad.mit.edu	37	1	158059361	158059361	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:158059361C>T	ENST00000368172.1	+	5	568	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	KIRREL_ENST00000360089.4_Missense_Mutation_p.R208W|KIRREL_ENST00000359209.6_Missense_Mutation_p.R372W|KIRREL_ENST00000416935.2_Missense_Mutation_p.R272W|KIRREL_ENST00000392272.2_Missense_Mutation_p.R269W|KIRREL_ENST00000368173.3_Missense_Mutation_p.R388W			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	372	Ig-like C2-type 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CTACACCTGCCGGGCCATCGT	0.662000													7	94					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42882668	42882668	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr13:42882668C>T	ENST00000025301.2	+	9	5371	c.5196C>T	c.(5194-5196)agC>agT	p.S1732S		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1732	Ser-rich.				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GTGATGACAGCACTGGTAGCT	0.363000													8	102					0	0	1	0	0
ABCB9	23457	broad.mit.edu	37	12	123424727	123424727	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:123424727C>T	ENST00000542678.1	-	9	4512	c.1674G>A	c.(1672-1674)ctG>ctA	p.L558L	ABCB9_ENST00000442833.2_Silent_p.L558L|ABCB9_ENST00000344275.7_Silent_p.L558L|ABCB9_ENST00000280560.8_Silent_p.L558L|ABCB9_ENST00000392439.3_Silent_p.L558L|ABCB9_ENST00000442028.2_Silent_p.L558L|ABCB9_ENST00000540285.1_Silent_p.L495L|ABCB9_ENST00000541983.1_5'UTR|ABCB9_ENST00000346530.5_Silent_p.L515L			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	558	ABC transporter.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GGCCCCCCTCCAGGGGGTAGA	0.652000													4	22					0	0	1	0	0
PSRC1	84722	broad.mit.edu	37	1	109824316	109824316	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:109824316G>A	ENST00000438534.2	-	4	582	c.444C>T	c.(442-444)ctC>ctT	p.L148L	PSRC1_ENST00000369907.3_Silent_p.L148L|PSRC1_ENST00000409267.1_Silent_p.L148L|PSRC1_ENST00000409138.2_Silent_p.L148L|PSRC1_ENST00000369903.2_Silent_p.L148L|PSRC1_ENST00000369904.3_Silent_p.L148L|PSRC1_ENST00000369909.2_Silent_p.L148L	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	148	4 X 4 AA repeats of P-X-X-P.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		CATTACTCCGGAGTCGAGGCG	0.572000													8	83					0	0	1	0	0
TPSB2	64499	broad.mit.edu	37	16	1279735	1279735	+	RNA	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:1279735G>T	ENST00000430512.2	-	0	116				TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000339687.6_RNA	NM_024164.5	NP_077078.5	P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)						proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				GGCCTGGCCTGGGGCTGGGGC	0.716000													8	27					0.000157383	0.000166221	1	1	0
UBR2	23304	broad.mit.edu	37	6	42644556	42644556	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:42644556G>T	ENST00000372899.1	+	40	4681	c.4423G>T	c.(4423-4425)Gaa>Taa	p.E1475*	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Nonsense_Mutation_p.E1475*	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1475					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TCCCCCTTGTGAAGAAGAATC	0.353000													17	75					1.67942e-08	1.90334e-08	1	1	0
SMCHD1	23347	broad.mit.edu	37	18	2775772	2775772	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:2775772T>C	ENST00000320876.6	+	42	5554	c.5216T>C	c.(5215-5217)aTg>aCg	p.M1739T	SMCHD1_ENST00000261598.8_Missense_Mutation_p.M1739T|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1739					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AGAGCTGCGATGGTTATTTCT	0.373000													4	58					0	0	1	0	0
C4BPA	722	broad.mit.edu	37	1	207314564	207314564	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:207314564C>T	ENST00000367070.3	+	10	1581	c.1387C>T	c.(1387-1389)Cag>Tag	p.Q463*		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	463	Sushi 7.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TCTGGTCGGACAGGCGAAACT	0.418000													7	116					0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112506753	112506753	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:112506753G>A	ENST00000261745.4	-	11	1328	c.1080C>T	c.(1078-1080)ggC>ggT	p.G360G		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	360						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						AAGGTTTATCGCCAAACTTTT	0.358000													20	63					0	0	1	0	0
SOX18	54345	broad.mit.edu	37	20	62680649	62680649	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:62680649C>A	ENST00000340356.7	-	1	345	c.221G>T	c.(220-222)cGc>cTc	p.R74L		NM_018419.2	NP_060889.1	P35713	SOX18_HUMAN	SRY (sex determining region Y)-box 18	74					angiogenesis|blood vessel endothelial cell migration|endocardial cell differentiation|endocardium formation|establishment of endothelial barrier|heart looping|lymphangiogenesis|lymphatic endothelial cell differentiation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|positive regulation of transcription from RNA polymerase II promoter|vasculogenesis	nucleus	transcription regulatory region DNA binding			lung(3)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GCGTTCCCCGCGGCCGGCCGG	0.776000													3	32					0.115264	0.116052	1	1	0
CLEC4M	10332	broad.mit.edu	37	19	7830594	7830594	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:7830594G>A	ENST00000327325.5	+	4	403	c.285G>A	c.(283-285)caG>caA	p.Q95Q	CLEC4M_ENST00000394122.2_Silent_p.Q83Q|CLEC4M_ENST00000597522.1_Silent_p.Q95Q|CLEC4M_ENST00000595496.1_Silent_p.Q74Q|CLEC4M_ENST00000334806.5_Silent_p.Q67Q|CLEC4M_ENST00000359059.5_Silent_p.Q74Q|CLEC4M_ENST00000596363.1_Silent_p.Q67Q|CLEC4M_ENST00000248228.4_Silent_p.Q95Q|CLEC4M_ENST00000596707.1_Silent_p.Q74Q|CLEC4M_ENST00000357361.2_Silent_p.Q95Q	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	95					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						ACCTGACCCAGCTTAAAGCTG	0.532000													33	113					0	0	1	0	0
VPS37A	137492	broad.mit.edu	37	8	17123433	17123433	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:17123433A>G	ENST00000324849.4	+	2	817	c.143A>G	c.(142-144)aAa>aGa	p.K48R	VPS37A_ENST00000521829.1_Intron|VPS37A_ENST00000324815.3_Missense_Mutation_p.K48R	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	48					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		GAAATACAGAAAGATGTGGAA	0.303000													8	75					0	0	1	0	0
HAS2	3037	broad.mit.edu	37	8	122626600	122626600	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:122626600T>C	ENST00000303924.4	-	4	1945	c.1408A>G	c.(1408-1410)Acc>Gcc	p.T470A		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	470						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			ACAACAATGGTTTTCCTTCCT	0.413000													18	148					0	0	1	0	0
CEP57L1	285753	broad.mit.edu	37	6	109471354	109471354	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:109471354G>A	ENST00000407272.1	+	6	951	c.374G>A	c.(373-375)cGt>cAt	p.R125H	CEP57L1_ENST00000336977.4_Intron|CEP57L1_ENST00000517392.1_Missense_Mutation_p.R125H|CEP57L1_ENST00000368970.2_Missense_Mutation_p.R125H|CEP57L1_ENST00000368968.2_Missense_Mutation_p.R125H|CEP57L1_ENST00000519095.1_Missense_Mutation_p.R125H|CEP57L1_ENST00000521522.1_Missense_Mutation_p.R125H|CEP57L1_ENST00000521277.1_Intron|CEP57L1_ENST00000520883.1_Intron|CEP57L1_ENST00000359793.3_Missense_Mutation_p.R125H|CEP57L1_ENST00000523787.1_Missense_Mutation_p.R128H	NM_001083535.1	NP_001077004.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	125						microtubule|microtubule organizing center				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						GCCCAGTCTCGTTGTACTCTT	0.373000													17	95					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119327768	119327768	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:119327768G>A	ENST00000338891.7	-	7	2102	c.1659C>T	c.(1657-1659)ggC>ggT	p.G553G	FAM184A_ENST00000368475.4_Silent_p.G433G|FAM184A_ENST00000352896.5_Silent_p.G433G|FAM184A_ENST00000522284.1_Silent_p.G433G|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Silent_p.G553G	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	553										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CTTGGAGGTGGCCAATCTGTA	0.348000													13	100					0	0	1	0	0
LCE1E	353135	broad.mit.edu	37	1	152759794	152759794	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:152759794C>A	ENST00000368770.3	+	2	72	c.19C>A	c.(19-21)Cag>Aag	p.Q7K	LCE1E_ENST00000368771.1_Missense_Mutation_p.Q7K	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	7	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGCAGAGCCAGCAGCAGTG	0.602000													48	254					2.77807e-22	3.37569e-22	1	1	0
UGT3A2	167127	broad.mit.edu	37	5	36039627	36039627	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:36039627C>A	ENST00000282507.3	-	5	1128	c.1027G>T	c.(1027-1029)Gct>Tct	p.A343S	UGT3A2_ENST00000545528.1_Missense_Mutation_p.A41S|UGT3A2_ENST00000513300.1_Missense_Mutation_p.A309S	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	343						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACATTTGCAGCCAGGTGGACA	0.527000													23	84					1.85244e-09	2.12532e-09	1	1	0
GPR158	57512	broad.mit.edu	37	10	25887326	25887326	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:25887326G>A	ENST00000376351.3	+	11	3130	c.2771G>A	c.(2770-2772)gGt>gAt	p.G924D	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	924						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAAACAGCAGGTGTGGAAGAA	0.448000													22	200					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120655890	120655890	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:120655890C>A	ENST00000310396.5	+	3	888	c.421C>A	c.(421-423)Cta>Ata	p.L141I	CPED1_ENST00000495036.1_3'UTR|CPED1_ENST00000450913.2_Missense_Mutation_p.L141I|CPED1_ENST00000340646.5_Missense_Mutation_p.L141I	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		AGGGCCGGGGCTACTAGAACA	0.438000													5	23					0.014758	0.0149955	1	1	0
GABRB2	2561	broad.mit.edu	37	5	160758126	160758126	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:160758126T>C	ENST00000274547.2	-	9	1058	c.841A>G	c.(841-843)Act>Gct	p.T281A	GABRB2_ENST00000517547.1_Missense_Mutation_p.T121A|GABRB2_ENST00000520240.1_Missense_Mutation_p.T281A|GABRB2_ENST00000353437.6_Missense_Mutation_p.T281A|GABRB2_ENST00000517901.1_Missense_Mutation_p.T218A|GABRB2_ENST00000393959.1_Missense_Mutation_p.T281A	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	281					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GTGAGGACAGTTGTGATTCCT	0.403000													23	144					0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94718090	94718090	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:94718090G>T	ENST00000304338.3	+	16	1876	c.1722G>T	c.(1720-1722)ttG>ttT	p.L574F		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	574						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTCTAGAATTGGGCCAAGGAA	0.264000													8	59					0.0477658	0.0483399	1	1	0
STX6	10228	broad.mit.edu	37	1	180971836	180971836	+	Splice_Site	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:180971836C>T	ENST00000258301.5	-	3	443	c.205_splice	c.e3-1	p.S69_splice	STX6_ENST00000542060.1_Intron	NM_005819.4	NP_005810.1	O43752	STX6_HUMAN	syntaxin 6	69					Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity	p.S69N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						TTCAACTATGCGTAGGTCAAA	0.368000													9	59					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32046972	32046972	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:32046972G>A	ENST00000375244.3	-	11	4414	c.4213C>T	c.(4213-4215)Cag>Tag	p.Q1405*	TNXB_ENST00000375247.2_Nonsense_Mutation_p.Q1405*			P22105	TENX_HUMAN	tenascin XB	1492	Fibronectin type-III 6.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCTTGTACTGCACGGTGAAA	0.647000													10	172					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77400859	77400859	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:77400859G>A	ENST00000451710.3	-	21	3087	c.2850C>T	c.(2848-2850)ttC>ttT	p.F950F	TRPM6_ENST00000360774.1_Silent_p.F950F|TRPM6_ENST00000376864.4_Silent_p.F950F|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Silent_p.F945F|TRPM6_ENST00000361255.3_Silent_p.F945F|TRPM6_ENST00000376872.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	950					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGAGCCGTGAGAACCAGAATA	0.463000													24	179					0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49285068	49285068	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:49285068A>G	ENST00000559471.1	-	18	2942	c.2679T>C	c.(2677-2679)aaT>aaC	p.N893N	SECISBP2L_ENST00000261847.3_Silent_p.N848N	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	893										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CCTCTTTCTCATTTTCTGATG	0.398000													7	145					0	0	1	0	0
FAM105B	90268	broad.mit.edu	37	5	14681701	14681701	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:14681701C>T	ENST00000284274.4	+	4	531	c.453C>T	c.(451-453)gaC>gaT	p.D151D		NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN	family with sequence similarity 105, member B	151										breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					GGCTGCAGGACCCGGAGCTCA	0.547000													17	55					0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52206159	52206159	+	Silent	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:52206159C>A	ENST00000282588.6	+	14	2225	c.1767C>A	c.(1765-1767)atC>atA	p.I589I		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	589					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTAATGACATCGTGATAGGAG	0.428000													14	60					3.27435e-08	3.68495e-08	1	1	0
SCN4A	6329	broad.mit.edu	37	17	62034786	62034786	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:62034786C>T	ENST00000435607.1	-	13	2188	c.2112G>A	c.(2110-2112)acG>acA	p.T704T	SCN4A_ENST00000578147.1_Silent_p.T704T	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	704			T -> M (in HYPP and PMC).		muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CCAGCACCAGCGTCAGGTTAC	0.562000													10	37					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105903380	105903380	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:105903380G>A	ENST00000357060.3	-	32	4077	c.3962C>T	c.(3961-3963)aCg>aTg	p.T1321M	WDR96_ENST00000428666.1_Missense_Mutation_p.T1293M	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1321										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTCTGAGTGCGTTTTCTGTTT	0.423000													8	37					0	0	1	0	0
MYBPH	4608	broad.mit.edu	37	1	203138416	203138416	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:203138416T>A	ENST00000255416.4	-	8	1252	c.1195A>T	c.(1195-1197)Acc>Tcc	p.T399S		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	399	Ig-like C2-type 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		AACAACTGGGTGCTGTAGCCA	0.612000													7	36					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100166777	100166777	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:100166777T>C	ENST00000547776.2	-	8	1050	c.1051A>G	c.(1051-1053)Aca>Gca	p.T351A	ANKS1B_ENST00000329257.7_Missense_Mutation_p.T351A|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	351						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TCTGATATTGTGTGGCACAAG	0.388000													10	57					0	0	1	0	0
GLS	2744	broad.mit.edu	37	2	191769864	191769864	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:191769864G>A	ENST00000320717.3	+	6	1208	c.950G>A	c.(949-951)aGa>aAa	p.R317K	GLS_ENST00000338435.4_Missense_Mutation_p.R317K	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	317					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGTGGACTAAGATTCAACAAA	0.323000													9	35					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15079159	15079159	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:15079159C>T	ENST00000598504.1	-	6	1863	c.504G>A	c.(502-504)cgG>cgA	p.R168R	SLC1A6_ENST00000221742.3_Silent_p.R168R|SLC1A6_ENST00000430939.2_Intron|SLC1A6_ENST00000600144.1_Silent_p.R168R|SLC1A6_ENST00000544886.2_Silent_p.R168R	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	168					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TGGTCTCGATCCGGCCCTCCC	0.522000													5	22					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119903658	119903658	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:119903658G>T	ENST00000313400.4	-	4	1215	c.1115C>A	c.(1114-1116)cCa>cAa	p.P372Q	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Missense_Mutation_p.P372Q|ASTN2_ENST00000361209.2_Intron			O75129	ASTN2_HUMAN	astrotactin 2	372						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCGCAGGGGTGGTTGCAGCTG	0.602000													15	50					7.93312e-07	8.74424e-07	1	1	0
TMEM200A	114801	broad.mit.edu	37	6	130762581	130762581	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:130762581C>A	ENST00000392429.1	+	2	3392	c.1014C>A	c.(1012-1014)ttC>ttA	p.F338L	TMEM200A_ENST00000545622.1_Missense_Mutation_p.F338L|TMEM200A_ENST00000296978.3_Missense_Mutation_p.F338L	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	338						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GTGAATCCTTCCAGCCCGTCA	0.488000													25	73					4.26978e-12	5.01926e-12	1	1	0
SETMAR	6419	broad.mit.edu	37	3	4354885	4354885	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:4354885C>T	ENST00000358065.4	+	2	527	c.460C>T	c.(460-462)Cgt>Tgt	p.R154C	SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000425863.1_Missense_Mutation_p.R154C|SETMAR_ENST00000430981.1_Missense_Mutation_p.R154C	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	141	Histone-lysine N-methyltransferase.|SET.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		CTGGGGACTTCGTACCTTGGA	0.438000								Chromatin Structure					5	47					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276016	186276016	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:186276016G>A	ENST00000445192.2	+	7	1210	c.1165G>A	c.(1165-1167)Gca>Aca	p.A389T	PRG4_ENST00000367483.4_Missense_Mutation_p.A348T|PRG4_ENST00000367484.3_Missense_Mutation_p.A348T|PRG4_ENST00000367486.3_Missense_Mutation_p.A346T|PRG4_ENST00000367485.4_Missense_Mutation_p.A296T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	389	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCAAGTCTGCACCCACCAC	0.637000													18	162					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120381640	120381640	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:120381640A>G	ENST00000331113.4	+	3	2296	c.1331A>G	c.(1330-1332)tAc>tGc	p.Y444C		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	444					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GCAAATGCTTACATGCAGAGC	0.368000													13	43					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27800044	27800044	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:27800044A>G	ENST00000408964.2	+	1	656	c.605A>G	c.(604-606)cAg>cGg	p.Q202R		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	202										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCAGATCTTCAGGTACCAAAA	0.418000													6	74					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600529	29600529	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr13:29600529C>T	ENST00000431530.3	+	1	1782	c.1724C>T	c.(1723-1725)gCg>gTg	p.A575V		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	565						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.A575V(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGTATGGATGCGGGGTCCCCC	0.552000													18	88					0	0	1	0	0
ZNF34	80778	broad.mit.edu	37	8	145998871	145998871	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:145998871G>A	ENST00000429371.2	-	6	1553	c.1400C>T	c.(1399-1401)tCc>tTc	p.S467F	ZNF34_ENST00000343459.4_Missense_Mutation_p.S488F	NM_030580.3	NP_085057.3	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		GATGAGTCTGGAACTGTTGTG	0.537000													9	77					0	0	1	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169699556	169699556	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:169699556T>C	ENST00000444448.2	+	10	1035	c.559T>C	c.(559-561)Tac>Cac	p.Y187H	NOSTRIN_ENST00000458381.2_Missense_Mutation_p.Y187H|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.Y159H|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.Y109H|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.Y109H|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.Y159H|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.Y187H			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	184					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						AGATGAAAATTACTACCAAAA	0.323000													9	36					0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183882619	183882619	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:183882619C>T	ENST00000313143.3	+	5	747	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	DVL3_ENST00000431765.1_Missense_Mutation_p.R167W|DVL3_ENST00000462665.1_3'UTR|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	167					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GGGGGAACGGCGGCGAGAACC	0.572000													14	98					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144877271	144877271	+	Splice_Site	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:144877271C>A	ENST00000369359.4	-	31	4862	c.4823_splice	c.e31-1	p.G1608_splice	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Splice_Site_p.G1472_splice|PDE4DIP_ENST00000313382.9_Splice_Site_p.G1428_splice|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000369354.3_Splice_Site_p.G1472_splice|PDE4DIP_ENST00000530740.1_Splice_Site_p.G1608_splice			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1472	NBPF.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AATCATATTTCCTAATGCAGG	0.433000			T	PDGFRB	MPD								17	119					1.02788e-11	1.20271e-11	1	1	0
SLC9A2	6549	broad.mit.edu	37	2	103299789	103299789	+	Silent	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:103299789C>A	ENST00000233969.2	+	4	1216	c.1074C>A	c.(1072-1074)acC>acA	p.T358T		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	358						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CCTACACGACCATCAAGTACT	0.433000													23	81					1.10513e-12	1.30519e-12	1	1	0
ZNRF4	148066	broad.mit.edu	37	19	5456227	5456227	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:5456227C>T	ENST00000222033.4	+	1	802	c.725C>T	c.(724-726)cCg>cTg	p.P242L		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	242						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GACGACCCACCGTGCCACGAC	0.667000													9	62					0	0	1	0	0
ARRB2	409	broad.mit.edu	37	17	4621236	4621236	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:4621236G>A	ENST00000269260.2	+	8	772	c.539G>A	c.(538-540)gGc>gAc	p.G180D	ARRB2_ENST00000346341.2_Missense_Mutation_p.G165D|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000412477.3_Missense_Mutation_p.G201D|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000381488.6_Missense_Mutation_p.G165D|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000575877.1_Missense_Mutation_p.G180D	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	180					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						GAGAAACCCGGCCCCCAGCCT	0.632000													8	33					0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31997054	31997054	+	Silent	SNP	C	C	G	rs78385416		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:31997054C>G	ENST00000435363.2	+	28	3699	c.3615C>G	c.(3613-3615)gcC>gcG	p.A1205A	C4B_ENST00000425700.2_Silent_p.A1205A	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1205					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										TGACCAAGGCCCCTGCGGACC	0.627000													21	92					0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7690786	7690786	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:7690786G>A	ENST00000358368.4	-	6	839	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	XAB2_ENST00000534844.1_Missense_Mutation_p.R265C	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	268					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						TGGCCGCTGCGGATGTAGTAG	0.632000								Direct reversal of damage;Nucleotide excision repair (NER)					12	51					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48318328	48318328	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:48318328A>T	ENST00000435803.1	+	18	7561	c.7537A>T	c.(7537-7539)Aga>Tga	p.R2513*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2513					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGCTGACCTGAGAGATCTTGC	0.428000													43	229					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26551833	26551833	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:26551833G>A	ENST00000381340.3	-	54	8088	c.7672C>T	c.(7672-7674)Cta>Tta	p.L2558L	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2558					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GTTGTCTTTAGAATTTCTTCT	0.328000													5	30					0	0	1	0	0
PRKAG3	53632	broad.mit.edu	37	2	219691684	219691684	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:219691684G>A	ENST00000439262.2	-	10	1155	c.1060C>T	c.(1060-1062)Cgt>Tgt	p.R354C	PRKAG3_ENST00000392098.3_3'UTR|PRKAG3_ENST00000545803.1_Missense_Mutation_p.R195C|PRKAG3_ENST00000529249.1_Missense_Mutation_p.R379C	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	379					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGACACACGCCGGTCCACA	0.597000													19	76					0	0	1	0	0
IPCEF1	26034	broad.mit.edu	37	6	154567876	154567876	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:154567876C>T	ENST00000265198.4	-	5	247	c.92G>A	c.(91-93)cGg>cAg	p.R31Q	IPCEF1_ENST00000367220.4_Missense_Mutation_p.R32Q|IPCEF1_ENST00000422970.2_Missense_Mutation_p.R32Q|OPRM1_ENST00000337049.4_Missense_Mutation_p.P405L|IPCEF1_ENST00000519344.1_Missense_Mutation_p.R3Q	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1			interaction protein for cytohesin exchange factors 1											breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						TATCCTCCTCCGACTCATCGT	0.403000													19	80					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469773	10469773	+	Missense_Mutation	SNP	A	A	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:10469773A>C	ENST00000382483.3	-	4	2058	c.1835T>G	c.(1834-1836)gTt>gGt	p.V612G		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	612					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)		AAGGCCCAGAACCAGAGGCTC	0.622000													9	71					0	0	1	0	0
TOR1B	27348	broad.mit.edu	37	9	132569566	132569566	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:132569566G>A	ENST00000259339.2	+	3	625	c.565G>A	c.(565-567)Gca>Aca	p.A189T		NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	189					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				GATCATTGACGCAATCAAGCC	0.493000													10	147					0	0	1	0	0
NFX1	4799	broad.mit.edu	37	9	33318740	33318740	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:33318740G>A	ENST00000379540.3	+	8	1662	c.1600G>A	c.(1600-1602)Ggc>Agc	p.G534S	NFX1_ENST00000318524.6_Missense_Mutation_p.G534S|NFX1_ENST00000379521.4_Missense_Mutation_p.G534S	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	534					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		ATGCTATTGCGGCAGCACCTC	0.358000													11	189					0	0	1	0	0
MRFAP1L1	114932	broad.mit.edu	37	4	6710991	6710991	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:6710991C>T	ENST00000320848.6	-	1	616	c.366G>A	c.(364-366)gaG>gaA	p.E122E		NM_203462.2	NP_982287.1	Q96HT8	MR1L1_HUMAN	Morf4 family associated protein 1-like 1	122																	ACTCGCTTCTCTCTATTCGCC	0.537000													18	74					0	0	1	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128894498	128894498	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:128894498C>T	ENST00000371106.3	+	16	1631	c.1439C>T	c.(1438-1440)aCc>aTc	p.T480I		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	480					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GAGGCATACACCCGTGTGCTG	0.562000													24	157					0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101080689	101080689	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:101080689C>T	ENST00000394095.2	-	11	1546	c.1493G>A	c.(1492-1494)tGc>tAc	p.C498Y	SENP7_ENST00000394094.2_Missense_Mutation_p.C433Y|SENP7_ENST00000348610.3_Missense_Mutation_p.C465Y|SENP7_ENST00000314261.7_Missense_Mutation_p.C432Y|SENP7_ENST00000394091.1_Missense_Mutation_p.C334Y|SENP7_ENST00000358203.3_Missense_Mutation_p.C334Y	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	498					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATTATATGGGCATAATTCAGA	0.289000													12	74					0	0	1	0	0
SLC7A8	23428	broad.mit.edu	37	14	23596496	23596496	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:23596496G>A	ENST00000316902.7	-	11	2223	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W	SLC7A8_ENST00000453702.1_Missense_Mutation_p.R297W|SLC7A8_ENST00000469263.1_Missense_Mutation_p.A282V|SLC7A8_ENST00000529705.2_Missense_Mutation_p.R395W|SLC7A8_ENST00000422941.2_Missense_Mutation_p.R276W	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	500					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CCTGAGCCCCGCTCCACCTCG	0.592000													10	67					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30303521	30303521	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr21:30303521T>C	ENST00000361371.4	-	29	5344	c.5194A>G	c.(5194-5196)Aaa>Gaa	p.K1732E	LTN1_ENST00000389194.2_Missense_Mutation_p.K1778E	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1732							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CTACAGGCTTTTTTGGGAAGG	0.333000													4	75					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44973866	44973866	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:44973866C>T	ENST00000340446.4	-	1	2616	c.2325G>A	c.(2323-2325)tcG>tcA	p.S775S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	775			S -> L (in a breast cancer sample; somatic mutation).			cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CCAAAACAACCGATCCTAATT	0.418000													19	145					0	0	1	0	0
MTIF2	4528	broad.mit.edu	37	2	55481268	55481268	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:55481268G>A	ENST00000394600.3	-	8	1309	c.573C>T	c.(571-573)caC>caT	p.H191H	MTIF2_ENST00000403721.1_Silent_p.H191H|MTIF2_ENST00000263629.4_Silent_p.H191H	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	191	G-domain.				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TCGTTTTCCCGTGATCAACAT	0.438000													7	56					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50720293	50720293	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr22:50720293A>T	ENST00000449103.1	-	20	3475	c.3335T>A	c.(3334-3336)aTc>aAc	p.I1112N	PLXNB2_ENST00000359337.4_Missense_Mutation_p.I1112N			O15031	PLXB2_HUMAN	plexin B2	1112					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGGGCGTGGATGAGCTTGTT	0.647000													6	46					0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56949880	56949880	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:56949880G>A	ENST00000497933.1	+	1	660	c.513G>A	c.(511-513)gtG>gtA	p.V171V		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	141						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TCAGCCATGTGCCAGCCGACA	0.592000													13	23					0	0	1	0	0
MARS2	92935	broad.mit.edu	37	2	198571570	198571570	+	Silent	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:198571570C>A	ENST00000282276.6	+	1	1484	c.1441C>A	c.(1441-1443)Cgg>Agg	p.R481R	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	481					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CAGCTGTGTCCGGCAAACTAA	0.537000													16	129					1.15088e-07	1.28375e-07	1	1	0
ZNF226	7769	broad.mit.edu	37	19	44681715	44681715	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:44681715G>A	ENST00000590089.1	+	7	2667	c.2300G>A	c.(2299-2301)cGa>cAa	p.R767Q	ZNF226_ENST00000454662.2_Missense_Mutation_p.R767Q|ZNF226_ENST00000337433.5_Missense_Mutation_p.R767Q|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	767					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				TTCAGTTGGCGATCAAATCTT	0.393000													14	59					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57537273	57537273	+	Silent	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:57537273G>T	ENST00000371236.2	-	6	743	c.480C>A	c.(478-480)ctC>ctA	p.L160L	DAB1_ENST00000420954.2_Silent_p.L160L|DAB1_ENST00000371234.4_Silent_p.L160L|DAB1_ENST00000371231.1_Silent_p.L160L|DAB1_ENST00000414851.2_Silent_p.L160L|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371230.1_Silent_p.L160L|DAB1_ENST00000439789.2_Intron			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	160	PID.				cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ATTCATAAATGAGTTGAAAGA	0.393000													9	43					1.12685e-05	1.22001e-05	1	1	0
FAM115C	285966	broad.mit.edu	37	7	143417140	143417140	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:143417140G>C	ENST00000441159.2	+	3	1054	c.988G>C	c.(988-990)Gac>Cac	p.D330H	FAM115C_ENST00000411935.1_Missense_Mutation_p.D166H|FAM115C_ENST00000409703.3_Missense_Mutation_p.D166H|FAM115C_ENST00000425618.2_Missense_Mutation_p.D49H|FAM115C_ENST00000444908.2_Missense_Mutation_p.D330H|FAM115C_ENST00000411497.2_Missense_Mutation_p.D49H|FAM115C_ENST00000357344.4_Missense_Mutation_p.D330H			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	330								p.D330N(1)		endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						TCTGAACAGCGACTTGTGTGT	0.567000													12	59					0	0	1	0	0
SPAG8	26206	broad.mit.edu	37	9	35811658	35811658	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:35811658T>C	ENST00000340291.2	-	2	509	c.385A>G	c.(385-387)Act>Gct	p.T129A	SPAG8_ENST00000396638.2_Missense_Mutation_p.T129A|SPAG8_ENST00000484764.1_Missense_Mutation_p.T127A	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	sperm associated antigen 8	129						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			CTATGGTCAGTTGTAGTGCAA	0.562000													27	69					0	0	1	0	0
LEPRE1	64175	broad.mit.edu	37	1	43213438	43213438	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:43213438C>G	ENST00000236040.4	-	13	1910	c.1870G>C	c.(1870-1872)Ggc>Cgc	p.G624R	LEPRE1_ENST00000462474.1_5'UTR|LEPRE1_ENST00000296388.5_Missense_Mutation_p.G624R|LEPRE1_ENST00000397054.3_Missense_Mutation_p.G624R	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	624	Fe2OG dioxygenase.				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AAGTTTCCGCCATCGAAGTCC	0.522000													18	143					0	0	1	0	0
LCE1F	353137	broad.mit.edu	37	1	152748981	152748981	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:152748981G>A	ENST00000334371.2	+	1	134	c.134G>A	c.(133-135)aGc>aAc	p.S45N		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	45					keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGCTGCAGCGTCAGCTCC	0.677000													11	111					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177001715	177001715	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:177001715C>A	ENST00000367654.2	-	3	755	c.742G>T	c.(742-744)Gat>Tat	p.D248Y	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.D248Y|ASTN1_ENST00000424564.2_Missense_Mutation_p.D248Y|ASTN1_ENST00000361833.2_Missense_Mutation_p.D248Y			O14525	ASTN1_HUMAN	astrotactin 1	248					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGGCGCAGATCAGTGATGTCA	0.612000													37	129					1.03484e-13	1.22791e-13	1	1	0
GANC	2595	broad.mit.edu	37	15	42602977	42602977	+	Silent	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:42602977C>A	ENST00000318010.8	+	10	1230	c.990C>A	c.(988-990)atC>atA	p.I330I	GANC_ENST00000566442.1_Silent_p.I330I	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	330					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		AGAGTGGCATCATTGATGTTT	0.458000													11	114					6.40141e-05	6.84262e-05	1	1	0
QSOX1	5768	broad.mit.edu	37	1	180163519	180163519	+	Missense_Mutation	SNP	G	G	A	rs145185695		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:180163519G>A	ENST00000367602.3	+	11	1534	c.1460G>A	c.(1459-1461)cGc>cAc	p.R487H	QSOX1_ENST00000367600.5_Missense_Mutation_p.R487H			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	487	ERV/ALR sulfhydryl oxidase.				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GTCAATGCTCGCCTTGCAGGT	0.602000													16	93					0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228003829	228003829	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:228003829G>A	ENST00000366757.3	+	2	211	c.187G>A	c.(187-189)Ggc>Agc	p.G63S		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	63	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						AATCCTGGGCGGCGTCCCTGC	0.677000													22	125					0	0	1	0	0
ASB2	51676	broad.mit.edu	37	14	94405652	94405652	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:94405652C>T	ENST00000555019.1	-	8	1849	c.1419G>A	c.(1417-1419)acG>acA	p.T473T	ASB2_ENST00000315988.4_Silent_p.T425T	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	425					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CGGTGGGGTGCGTGGCGATAT	0.647000													9	61					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103148914	103148914	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:103148914G>A	ENST00000295269.4	+	12	2621	c.2164G>A	c.(2164-2166)Gca>Aca	p.A722T		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	722					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGGAAGGAAGGCATTCAGCTT	0.478000													13	74					0	0	1	0	0
MFSD11	79157	broad.mit.edu	37	17	74738076	74738076	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:74738076C>A	ENST00000588460.1	+	4	2328	c.286C>A	c.(286-288)Cct>Act	p.P96T	MFSD11_ENST00000590514.1_Missense_Mutation_p.P96T|MFSD11_ENST00000355954.3_Missense_Mutation_p.P96T|MFSD11_ENST00000336509.4_Missense_Mutation_p.P96T|MFSD11_ENST00000586622.1_Missense_Mutation_p.P96T|MFSD11_ENST00000593181.1_Missense_Mutation_p.P96T	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	96						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TTTCATCCAGCCTTTCCCGTG	0.408000													7	212					0.000157383	0.000166221	1	1	0
TEX14	56155	broad.mit.edu	37	17	56659055	56659055	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:56659055A>T	ENST00000389934.3	-	20	3325	c.3208T>A	c.(3208-3210)Tct>Act	p.S1070T	TEX14_ENST00000240361.8_Missense_Mutation_p.S1076T|TEX14_ENST00000349033.5_Intron	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1076						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATATCCTCAGAAGACTCTGGT	0.353000													6	88					0	0	1	0	0
TFDP2	7029	broad.mit.edu	37	3	141697462	141697462	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:141697462C>T	ENST00000499676.2	-	7	907	c.236G>A	c.(235-237)tGt>tAt	p.C79Y	TFDP2_ENST00000317104.7_Missense_Mutation_p.C63Y|TFDP2_ENST00000495310.1_Missense_Mutation_p.C43Y|TFDP2_ENST00000467072.1_Missense_Mutation_p.C79Y|TFDP2_ENST00000464782.1_5'UTR|TFDP2_ENST00000489671.1_Missense_Mutation_p.C140Y|TFDP2_ENST00000486111.1_Missense_Mutation_p.C79Y|TFDP2_ENST00000397991.4_Missense_Mutation_p.C112Y|TFDP2_ENST00000479040.1_Missense_Mutation_p.C79Y|TFDP2_ENST00000477292.1_Missense_Mutation_p.C4Y|TFDP2_ENST00000310282.6_Missense_Mutation_p.C79Y	NM_001178139.1	NP_001171610.1	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	140					cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)|upper_aerodigestive_tract(2)	3						AACTTTCTCACACACTTTCAT	0.368000													8	47					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152417107	152417107	+	Splice_Site	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:152417107T>C	ENST00000427231.2	-	124	19515	c.19314_splice	c.e124+1	p.H6438_splice	NEB_ENST00000409198.1_Splice_Site_p.H4737_splice|NEB_ENST00000604864.1_Splice_Site_p.H6438_splice|NEB_ENST00000172853.10_Splice_Site_p.H4737_splice|NEB_ENST00000397345.3_Splice_Site_p.H6438_splice|NEB_ENST00000603639.1_Splice_Site_p.H6438_splice	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	6435					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTACTTACATGGCTGGCCAG	0.527000													5	18					0	0	1	0	0
MFSD10	10227	broad.mit.edu	37	4	2935297	2935297	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:2935297C>T	ENST00000329687.4	-	2	799	c.265G>A	c.(265-267)Gga>Aga	p.G89R	MFSD10_ENST00000355443.4_Missense_Mutation_p.G89R|MFSD10_ENST00000507555.1_Missense_Mutation_p.G89R|MFSD10_ENST00000508221.1_Missense_Mutation_p.G89R|MFSD10_ENST00000514800.1_Missense_Mutation_p.G89R	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	89					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCCATACCTCCGAACAGGACA	0.632000													6	64					0	0	1	0	0
ZNF124	7678	broad.mit.edu	37	1	247320033	247320033	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:247320033T>C	ENST00000340684.6	-	4	843	c.705A>G	c.(703-705)aaA>aaG	p.K235K	ZNF124_ENST00000543802.2_Silent_p.K297K|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491356.1_Intron	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	zinc finger protein 124	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			ATCTGAAGCCTTTACCACAAT	0.433000													13	157					0	0	1	0	0
NR2C1	7181	broad.mit.edu	37	12	95445590	95445590	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:95445590C>T	ENST00000333003.5	-	8	1243	c.913G>A	c.(913-915)Gat>Aat	p.D305N	NR2C1_ENST00000330677.7_Missense_Mutation_p.D305N|NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Missense_Mutation_p.D305N	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	305					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						AAAGAGGTATCATCATTGCTT	0.328000													3	29					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9046721	9046721	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:9046721C>A	ENST00000397910.4	-	5	35113	c.34910G>T	c.(34909-34911)aGt>aTt	p.S11637I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11639	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTTGCAGAACTAGTGACCTG	0.522000													40	124					3.54561e-26	4.32618e-26	1	1	0
CDKL5	6792	broad.mit.edu	37	X	18622687	18622687	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:18622687A>G	ENST00000379989.3	+	13	1928	c.1643A>G	c.(1642-1644)aAt>aGt	p.N548S	CDKL5_ENST00000379996.3_Missense_Mutation_p.N548S|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	548					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TCTGGAAGAAATAACCGAAAT	0.512000													39	68					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55087350	55087350	+	Silent	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:55087350G>C	ENST00000251377.3	+	7	1162	c.1029G>C	c.(1027-1029)ctG>ctC	p.L343L	LILRA2_ENST00000391737.1_Silent_p.L331L|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Silent_p.L343L|LILRA2_ENST00000251376.3_Silent_p.L343L|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TGACCCTGCTGTGTCAGTCAC	0.582000													13	79					0	0	1	0	0
ZNF362	149076	broad.mit.edu	37	1	33741724	33741724	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:33741724A>G	ENST00000539719.1	+	3	232	c.62A>G	c.(61-63)aAc>aGc	p.N21S	ZNF362_ENST00000373428.5_Missense_Mutation_p.N21S	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CGATTTAACAACCCCTACTTC	0.667000													4	66					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3640560	3640560	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:3640560C>T	ENST00000294008.3	-	12	3719	c.3079G>A	c.(3079-3081)Gca>Aca	p.A1027T		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1027	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GGTGGAGATGCCTGCCAGGGA	0.637000								Direct reversal of damage					20	124					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189873720	189873720	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:189873720G>T	ENST00000304636.3	+	48	3766	c.3596G>T	c.(3595-3597)gGt>gTt	p.G1199V	COL3A1_ENST00000317840.5_Missense_Mutation_p.G896V	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1199	Nonhelical region (C-terminal).				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGCTGTGGTGGTGTTGGAGCC	0.547000													22	81					7.45023e-12	8.74054e-12	1	1	0
FOCAD	54914	broad.mit.edu	37	9	20912883	20912883	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:20912883G>A	ENST00000380249.1	+	25	3101	c.2737G>A	c.(2737-2739)Gag>Aag	p.E913K	FOCAD_ENST00000605086.1_Missense_Mutation_p.E349K|FOCAD_ENST00000338382.6_Missense_Mutation_p.E913K	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	913						integral to membrane	binding										AGGAGAGCTGGAGTTGCAGTT	0.408000													6	37					0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179201685	179201685	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:179201685C>T	ENST00000292599.3	+	5	3121	c.2858C>T	c.(2857-2859)gCg>gTg	p.A953V	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	953					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCGGTCGGGCGGGGCTGCAC	0.701000													7	43					0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46782069	46782069	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:46782069C>A	ENST00000394809.4	-	1	152	c.37G>T	c.(37-39)Ggg>Tgg	p.G13W	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	13					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CCTGGCAGCCCCCCATGCCCC	0.567000													11	38					0.000978159	0.00101669	1	1	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764576	138764576	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:138764576C>T	ENST00000242351.5	-	4	1427	c.1111G>A	c.(1111-1113)Gcc>Acc	p.A371T	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.A371T|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.A371T	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	371					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TTTCTCCTGGCGCCTTGGTCA	0.552000													13	120					0	0	1	0	0
NUMB	8650	broad.mit.edu	37	14	73743742	73743742	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:73743742G>A	ENST00000556772.1	-	7	3355	c.1068C>T	c.(1066-1068)gcC>gcT	p.A356A	NUMB_ENST00000554521.2_Silent_p.A294A|NUMB_ENST00000555394.1_Silent_p.A452A|NUMB_ENST00000555238.1_Silent_p.A500A|NUMB_ENST00000555738.2_Silent_p.A343A|NUMB_ENST00000557597.1_Silent_p.A489A|NUMB_ENST00000454166.4_Silent_p.A354A|NUMB_ENST00000535282.1_Silent_p.A489A|NUMB_ENST00000544991.3_Silent_p.A305A|NUMB_ENST00000359560.3_Silent_p.A489A|NUMB_ENST00000554546.1_Silent_p.A441A|NUMB_ENST00000559312.1_Silent_p.A305A|NUMB_ENST00000560335.1_Silent_p.A354A|NUMB_ENST00000355058.3_Silent_p.A500A|NUMB_ENST00000356296.4_Silent_p.A452A			P49757	NUMB_HUMAN	numb homolog (Drosophila)	500					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		CTGGTTGCAGGGCTGGGACCA	0.602000													14	74					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186304663	186304663	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:186304663T>C	ENST00000367478.3	-	34	5014	c.4718A>G	c.(4717-4719)cAg>cGg	p.Q1573R		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1573					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTTAGTTAGCTGATCTTTTAC	0.343000			T	NTRK1	papillary thyroid								13	119					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135738647	135738647	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:135738647C>A	ENST00000375845.3	-	9	3694	c.3664G>T	c.(3664-3666)Gac>Tac	p.D1222Y	MAP3K19_ENST00000392917.3_Missense_Mutation_p.D354Y|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000358371.4_Missense_Mutation_p.D1109Y|MAP3K19_ENST00000392918.3_Missense_Mutation_p.D356Y|MAP3K19_ENST00000375844.3_Missense_Mutation_p.D404Y|MAP3K19_ENST00000315513.3_Missense_Mutation_p.D83Y	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		TTAAGCATGTCACTGTGGGTG	0.468000													18	86					2.35188e-11	2.74283e-11	1	1	0
MYH7	4625	broad.mit.edu	37	14	23896941	23896941	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:23896941G>T	ENST00000355349.3	-	16	1903	c.1741C>A	c.(1741-1743)Cac>Aac	p.H581N		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	581	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCGGCATAGTGGATCAGGGAG	0.522000													18	96					1.01871e-10	1.18104e-10	1	1	0
PTPN23	25930	broad.mit.edu	37	3	47452631	47452631	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:47452631G>A	ENST00000265562.4	+	20	3420	c.3343G>A	c.(3343-3345)Gca>Aca	p.A1115T	PTPN23_ENST00000431726.1_Missense_Mutation_p.A989T	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1115	His.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCGAGGCGCCGCAGCTGCAGA	0.711000													4	18					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169698744	169698744	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:169698744G>A	ENST00000333360.7	-	6	925	c.786C>T	c.(784-786)ttC>ttT	p.F262F	SELE_ENST00000367779.4_Silent_p.F262F|SELE_ENST00000367782.4_Silent_p.F262F|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367777.1_Silent_p.F262F|SELE_ENST00000367781.4_Silent_p.F262F|SELE_ENST00000367775.1_Silent_p.F200F|SELE_ENST00000367774.1_Silent_p.F262F|SELE_ENST00000367776.1_Silent_p.F262F|SELE_ENST00000367780.4_Silent_p.F200F	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	262	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TGTTCCATGGGAAGCTTCCAG	0.453000													35	139					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100327118	100327118	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:100327118A>G	ENST00000294724.4	+	3	620	c.142A>G	c.(142-144)Aca>Gca	p.T48A	AGL_ENST00000370165.3_Missense_Mutation_p.T48A|AGL_ENST00000361522.4_Missense_Mutation_p.T31A|AGL_ENST00000370163.3_Missense_Mutation_p.T48A|AGL_ENST00000370161.2_Missense_Mutation_p.T32A|AGL_ENST00000361915.3_Missense_Mutation_p.T48A|AGL_ENST00000361302.3_Missense_Mutation_p.T32A	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	48					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TACCGTGTATACAAATTACCC	0.363000													12	39					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40843310	40843310	+	Splice_Site	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:40843310T>C	ENST00000264638.4	+	14	2432	c.2216_splice	c.e14+1	p.W739_splice	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	739	Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CCAGCCCCAGTGGTGAGGGGG	0.637000													16	107					0	0	1	0	0
LDHA	3939	broad.mit.edu	37	11	18425354	18425354	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:18425354G>T	ENST00000422447.3	+	6	979	c.706G>T	c.(706-708)Gag>Tag	p.E236*	LDHA_ENST00000430553.2_Nonsense_Mutation_p.E178*|LDHA_ENST00000542179.1_Nonsense_Mutation_p.E236*|LDHA_ENST00000379412.5_Nonsense_Mutation_p.E236*|LDHA_ENST00000227157.4_Nonsense_Mutation_p.E236*|LDHA_ENST00000540430.1_Nonsense_Mutation_p.E265*|LDHA_ENST00000396222.2_Intron	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	236					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12					NADH(DB00157)	GCAGGTGGTTGAGAGGTAATA	0.338000													6	55					8.12818e-05	8.65701e-05	1	1	0
DUS3L	56931	broad.mit.edu	37	19	5789318	5789318	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:5789318G>A	ENST00000309061.7	-	3	896	c.800C>T	c.(799-801)gCa>gTa	p.A267V	DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Intron	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	267					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GCCCGGCCCTGCGGGGACCTG	0.731000													6	19					0	0	1	0	0
LRRFIP1	9208	broad.mit.edu	37	2	238642443	238642443	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:238642443G>A	ENST00000308482.9	+	9	540	c.471G>A	c.(469-471)cgG>cgA	p.R157R	LRRFIP1_ENST00000244815.5_Intron|LRRFIP1_ENST00000289175.6_Intron|LRRFIP1_ENST00000392000.4_Intron	NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	0					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		GCGCTGCCCGGCCTTCGGGGA	0.602000													10	41					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72054698	72054698	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:72054698C>T	ENST00000555818.1	+	2	457	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R37W|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R37W	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	37					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.R37W(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTTCTACATGCGGCGCTTCCG	0.547000													26	116					0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44839845	44839845	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr21:44839845T>C	ENST00000270162.6	-	9	1145	c.1013A>G	c.(1012-1014)tAt>tGt	p.Y338C		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	338	UBA.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						GAGGAGGTAATAAATGGCAGC	0.632000													7	12					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176178	140176178	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:140176178G>A	ENST00000526136.1	+	1	1629	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P	PCDHA2_ENST00000378132.1_Silent_p.P543P|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.P543P	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGTGCCGCCTCTGGGCA	0.692000													17	106					0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55356806	55356806	+	Silent	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:55356806C>A	ENST00000524622.1	-	7	1123	c.462G>T	c.(460-462)ctG>ctT	p.L154L	TESPA1_ENST00000532804.1_Silent_p.L154L|TESPA1_ENST00000531122.1_Silent_p.L154L|TESPA1_ENST00000449076.1_Silent_p.L292L|TESPA1_ENST00000316577.8_Silent_p.L292L	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	292																	GGCATGTGTACAGACACATCT	0.542000													12	45					1.08611e-07	1.21227e-07	1	1	0
NTRK1	4914	broad.mit.edu	37	1	156846281	156846281	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:156846281C>T	ENST00000368196.3	+	13	1824	c.1704C>T	c.(1702-1704)cgC>cgT	p.R568R	NTRK1_ENST00000392302.2_Silent_p.R538R|NTRK1_ENST00000524377.1_Silent_p.R574R|NTRK1_ENST00000358660.3_Silent_p.R571R	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	574	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	ACATCGTGCGCTTCTTCGGCG	0.637000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			18	53					0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57998443	57998443	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:57998443G>A	ENST00000564448.1	-	3	225	c.165C>T	c.(163-165)ccC>ccT	p.P55P	CNGB1_ENST00000311183.4_Silent_p.P55P|CNGB1_ENST00000251102.8_Silent_p.P55P			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	55	Glu-rich.				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ATGACTCTTCGGGGGGCTAGA	0.617000													6	41					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167779068	167779068	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:167779068C>G	ENST00000367848.1	-	33	4901	c.4404G>C	c.(4402-4404)tgG>tgC	p.W1468C	ADCY10_ENST00000367851.4_Missense_Mutation_p.W1560C|ADCY10_ENST00000545172.1_Missense_Mutation_p.W1407C|ADCY10_ENST00000485964.1_5'UTR			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1560					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AGGTTGAGTACCATGATTCCT	0.388000													11	83					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173474415	173474415	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:173474415G>T	ENST00000367714.3	-	26	3703	c.3281C>A	c.(3280-3282)aCc>aAc	p.T1094N	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	1094					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ATTTCTTTGGGTAAGCTCAGA	0.373000													9	48					1.58986e-06	1.74589e-06	1	1	0
HSD17B4	3295	broad.mit.edu	37	5	118867042	118867042	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:118867042G>T	ENST00000504811.1	+	23	2195	c.2011G>T	c.(2011-2013)Gta>Tta	p.V671L	HSD17B4_ENST00000414835.2_Missense_Mutation_p.V506L|HSD17B4_ENST00000510025.1_Missense_Mutation_p.V622L|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000515320.1_Missense_Mutation_p.V628L|HSD17B4_ENST00000256216.6_Missense_Mutation_p.V646L|HSD17B4_ENST00000509514.1_Missense_Mutation_p.V384L|HSD17B4_ENST00000513628.1_Missense_Mutation_p.V509L	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	646	SCP2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	GGTGAAGAAAGTAAATGCTGT	0.403000													11	49					6.40141e-05	6.84262e-05	1	1	0
FCRL2	79368	broad.mit.edu	37	1	157737239	157737239	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:157737239T>C	ENST00000361516.3	-	6	992	c.944A>G	c.(943-945)gAc>gGc	p.D315G	FCRL2_ENST00000392274.3_Missense_Mutation_p.D315G|FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000469986.1_Missense_Mutation_p.D62G	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	315	Ig-like C2-type 4.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTCCAGCAGGTCCCCCACTGC	0.572000													21	105					0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48694826	48694826	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:48694826G>A	ENST00000236495.5	+	4	441	c.391G>A	c.(391-393)Ggg>Agg	p.G131R	SLC5A9_ENST00000438567.2_Intron|SLC5A9_ENST00000420136.2_Intron|RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000533824.1_Missense_Mutation_p.G131R	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	113						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						aaggtcacacgggaggactgg	0.532000													17	161					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24923119	24923119	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:24923119C>T	ENST00000329468.2	+	1	2579	c.2105C>T	c.(2104-2106)aCc>aTc	p.T702I		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GCTATGCATACCACTCCTCCT	0.507000													21	184					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31125016	31125016	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:31125016C>T	ENST00000304166.4	+	9	917	c.628C>T	c.(628-630)Ctg>Ttg	p.L210L	ADCYAP1R1_ENST00000396211.2_Silent_p.L210L|ADCYAP1R1_ENST00000409489.1_Silent_p.L210L|ADCYAP1R1_ENST00000409363.1_Silent_p.L189L	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	210					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						AGACTGGATTCTGTATGCGGA	0.542000													11	121					0	0	1	0	0
GFRA1	2674	broad.mit.edu	37	10	117856264	117856264	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:117856264G>A	ENST00000439649.3	-	6	1134	c.767C>T	c.(766-768)gCg>gTg	p.A256V	GFRA1_ENST00000544592.1_Missense_Mutation_p.A140V|GFRA1_ENST00000355422.6_Missense_Mutation_p.A261V|GFRA1_ENST00000369236.1_Missense_Mutation_p.A256V	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	261					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		AAAAAAATCCGCAAGGCGAGA	0.473000													3	27					0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40076717	40076717	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:40076717T>C	ENST00000324616.5	+	8	1145	c.991T>C	c.(991-993)Tgt>Cgt	p.C331R	C12orf40_ENST00000405531.3_Missense_Mutation_p.C331R|C12orf40_ENST00000398716.1_Missense_Mutation_p.C254R	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	331										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						GGGAGATACTTGTGTAGTCAC	0.303000													26	54					0	0	1	0	0
RPS6KA2	6196	broad.mit.edu	37	6	167275639	167275639	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:167275639A>T	ENST00000510118.1	-	1	360	c.20T>A	c.(19-21)cTg>cAg	p.L7Q	RPS6KA2_ENST00000503859.1_Missense_Mutation_p.L7Q|RP11-514O12.4_ENST00000507747.1_Intron			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	0					axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CCATAGTTCCAGCAACTGTGC	0.473000													30	156					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110897233	110897233	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:110897233G>A	ENST00000265171.5	+	13	2340	c.1895G>A	c.(1894-1896)gGc>gAc	p.G632D	EGF_ENST00000509793.1_Missense_Mutation_p.G590D|EGF_ENST00000503392.1_Missense_Mutation_p.G632D	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	632					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CAAGGCCTTGGCCGTCTGGTT	0.433000													25	130					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196774816	196774816	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:196774816T>C	ENST00000312428.6	-	25	4139	c.4039A>G	c.(4039-4041)Aaa>Gaa	p.K1347E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1347	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.K1347E(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACACATTGTTTGGCTACAGCT	0.428000													8	54					0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42159056	42159056	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:42159056A>G	ENST00000444063.1	+	7	1051	c.919A>G	c.(919-921)Aaa>Gaa	p.K307E	L3MBTL1_ENST00000373135.3_Missense_Mutation_p.K307E|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.K375E|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.K307E|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.K375E			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	307					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GCAGCCTCCCAAAGGTAAGGC	0.567000													17	64					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	55					0	0	1	0	0
MYRF	745	broad.mit.edu	37	11	61533159	61533159	+	Missense_Mutation	SNP	A	A	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:61533159A>C	ENST00000278836.5	+	2	205	c.109A>C	c.(109-111)Atc>Ctc	p.I37L	MYRF_ENST00000265460.5_Missense_Mutation_p.I28L	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		GGAGGAGTACATCAGCAAGGA	0.657000													5	19					0	0	1	0	0
SREK1	140890	broad.mit.edu	37	5	65460677	65460677	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:65460677C>G	ENST00000334121.6	+	7	1112	c.953C>G	c.(952-954)tCt>tGt	p.S318C	SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000380918.3_Missense_Mutation_p.S202C	NM_001077199.2|NM_001270492.1	NP_001070667.1|NP_001257421.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	202	Arg/Glu/Lys/Ser-rich.				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						AAATCCAGGTCTAGCTCAAAA	0.368000													12	91					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140870275	140870275	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:140870275A>G	ENST00000252087.1	+	1	1468	c.1468A>G	c.(1468-1470)Acc>Gcc	p.T490A	PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		490	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCCGCCTCACCTACTCCAT	0.547000													30	135					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62065183	62065183	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:62065183G>A	ENST00000354587.3	-	8	1273	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M	KCNQ2_ENST00000370221.1_Missense_Mutation_p.T366M|KCNQ2_ENST00000359689.1_Missense_Mutation_p.T366M|KCNQ2_ENST00000359125.2_Missense_Mutation_p.T366M|KCNQ2_ENST00000344462.3_Missense_Mutation_p.T366M|KCNQ2_ENST00000482957.1_5'UTR|KCNQ2_ENST00000360480.3_Missense_Mutation_p.T366M|KCNQ2_ENST00000370226.1_Missense_Mutation_p.T366M|KCNQ2_ENST00000370222.3_Missense_Mutation_p.T366M|KCNQ2_ENST00000370224.1_Missense_Mutation_p.T366M|KCNQ2_ENST00000357249.2_Missense_Mutation_p.T366M|KCNQ2_ENST00000344425.5_Missense_Mutation_p.T366M|KCNQ2_ENST00000430658.1_Missense_Mutation_p.T366M			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	366					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CACGGTGACCGTTCGCTCGTA	0.542000													9	99					0	0	1	0	0
GGT5	2687	broad.mit.edu	37	22	24615993	24615993	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr22:24615993G>A	ENST00000327365.4	-	12	2122	c.1706C>T	c.(1705-1707)gCc>gTc	p.A569V	GGT5_ENST00000263112.7_Missense_Mutation_p.A537V|GGT5_ENST00000398292.3_Missense_Mutation_p.A570V|GGT5_ENST00000418439.2_Missense_Mutation_p.A493V	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	569					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GTACACACAGGCCCCCTCCTG	0.637000													17	36					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128492671	128492671	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:128492671C>T	ENST00000325888.8	+	36	6130	c.5869C>T	c.(5869-5871)Ctg>Ttg	p.L1957L	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.L1924L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1957					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GACCTCACAGCTGAATGTGGG	0.632000													17	64					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135583280	135583280	+	Missense_Mutation	SNP	T	T	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:135583280T>G	ENST00000513104.1	-	7	2005	c.1723A>C	c.(1723-1725)Act>Cct	p.T575P	TRPC7_ENST00000355180.3_Missense_Mutation_p.T514P|TRPC7_ENST00000426057.2_Missense_Mutation_p.T459P	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	575					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCTTTCACAGTTCTCCCTAGC	0.488000													6	118					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175348753	175348753	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:175348753C>A	ENST00000367674.1	-	9	2606	c.1898G>T	c.(1897-1899)gGt>gTt	p.G633V	TNR_ENST00000263525.2_Missense_Mutation_p.G633V	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	633	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ATATTGCTCACCCGCCAGGGT	0.547000													11	46					0.000978159	0.00101669	1	1	0
ZNF429	353088	broad.mit.edu	37	19	21719123	21719123	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:21719123G>C	ENST00000358491.4	+	4	476	c.268G>C	c.(268-270)Gac>Cac	p.D90H	ZNF429_ENST00000594022.1_3'UTR|ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						GCCAGAGCAAGACATAAAAGA	0.323000													4	48					0	0	1	0	0
NUP93	9688	broad.mit.edu	37	16	56868087	56868087	+	Missense_Mutation	SNP	G	G	A	rs150762291		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:56868087G>A	ENST00000564887.1	+	12	1845	c.1216G>A	c.(1216-1218)Gtg>Atg	p.V406M	NUP93_ENST00000542526.1_Missense_Mutation_p.V406M|NUP93_ENST00000569842.1_Missense_Mutation_p.V529M|NUP93_ENST00000308159.5_Missense_Mutation_p.V529M	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	529					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GCTGAACTTCGTGCGGCTCCT	0.567000													32	122					0	0	1	0	0
ATF6	22926	broad.mit.edu	37	1	161816294	161816294	+	Silent	SNP	A	A	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:161816294A>C	ENST00000367942.3	+	10	1310	c.1243A>C	c.(1243-1245)Agg>Cgg	p.R415R	ATF6_ENST00000476437.1_3'UTR	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	415					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			TGCAAATCAAAGGAGGCACCT	0.393000													20	105					0	0	1	0	0
FLYWCH1	84256	broad.mit.edu	37	16	2983575	2983575	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:2983575C>T	ENST00000399667.2	+	5	1604	c.1241C>T	c.(1240-1242)gCa>gTa	p.A414V	FLYWCH1_ENST00000416288.2_Missense_Mutation_p.A413V|FLYWCH1_ENST00000253928.9_Missense_Mutation_p.A414V			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	414						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						GACATGGACGCAGACCCGGGT	0.657000													3	36					0	0	1	0	0
DEPTOR	64798	broad.mit.edu	37	8	120940732	120940732	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:120940732G>T	ENST00000286234.5	+	2	345	c.215G>T	c.(214-216)tGg>tTg	p.W72L	DEPTOR_ENST00000523492.1_Intron	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	72	DEP 1.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						CTGATTGACTGGCTGATTGAA	0.453000													36	96					2.20474e-14	2.62844e-14	1	1	0
TPSAB1	7177	broad.mit.edu	37	16	1291157	1291157	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:1291157C>A	ENST00000461509.2	+	2	280	c.86C>A	c.(85-87)cCa>cAa	p.P29Q	TPSAB1_ENST00000338844.3_Missense_Mutation_p.P22Q			P20231	TRYB2_HUMAN	tryptase alpha/beta 1	22					proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				GCCCCAGCCCCAGGCCAGGCC	0.721000													5	26					8.12818e-05	8.65701e-05	1	1	0
PAK4	10298	broad.mit.edu	37	19	39663960	39663960	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:39663960C>T	ENST00000593690.1	+	5	1034	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	PAK4_ENST00000599470.1_Intron|PAK4_ENST00000358301.3_Missense_Mutation_p.R203W|PAK4_ENST00000435673.2_Missense_Mutation_p.R203W|PAK4_ENST00000321944.4_Intron|PAK4_ENST00000599386.1_Intron|PAK4_ENST00000360442.3_Missense_Mutation_p.R203W	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	203	Linker.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GGCAGCTGGCCGGCCCTTTAA	0.711000													6	7					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919307	51919307	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:51919307A>T	ENST00000353836.5	-	5	1090	c.869T>A	c.(868-870)cTg>cAg	p.L290Q	SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.L290Q|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.L232Q|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.L232Q|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.L242Q|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.L207Q|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.L290Q	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	290	Ig-like C2-type 2.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TCTGTTCTGCAGGACCCAGCT	0.652000													6	28					0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104493157	104493157	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:104493157C>T	ENST00000409874.4	+	28	3211	c.3163C>T	c.(3163-3165)Cac>Tac	p.H1055Y	TDRD9_ENST00000339063.5_Missense_Mutation_p.H1055Y	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	1055					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CTCTGTGGTGCACAGCGTCCT	0.587000													13	65					0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	240036897	240036897	+	Missense_Mutation	SNP	C	C	T	rs146432988	byFrequency	TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:240036897C>T	ENST00000345617.3	-	13	2419	c.1628G>A	c.(1627-1629)cGg>cAg	p.R543Q	HDAC4_ENST00000541256.1_Missense_Mutation_p.R517Q|HDAC4_ENST00000543185.1_Missense_Mutation_p.R127Q	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	543					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CCCCGGCAGCCGGTCCAGGTA	0.697000													25	81					0	0	1	0	0
INTS10	55174	broad.mit.edu	37	8	19694653	19694653	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:19694653A>G	ENST00000397977.3	+	13	2019	c.1621A>G	c.(1621-1623)Aag>Gag	p.K541E		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	541					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		CTCGAAAGTAAAGCCCAAATT	0.408000													11	47					0	0	1	0	0
HOXC4	3221	broad.mit.edu	37	12	54447721	54447721	+	Silent	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:54447721G>T	ENST00000430889.2	+	1	61	c.15G>T	c.(13-15)tcG>tcT	p.S5S	HOXC4_ENST00000303406.4_Silent_p.S5S	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	5						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						TCATGAGCTCGTATTTGATGG	0.418000													22	113					3.62473e-10	4.18584e-10	1	1	0
SCO2	9997	broad.mit.edu	37	22	50962676	50962676	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr22:50962676A>G	ENST00000543927.1	-	2	371	c.165T>C	c.(163-165)ccT>ccC	p.P55P	SCO2_ENST00000395693.3_Silent_p.P55P|SCO2_ENST00000252785.3_Silent_p.P55P|SCO2_ENST00000535425.1_Silent_p.P55P	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	55					cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TTCGAAGCCCAGGGCCCTGGG	0.682000													4	46					0	0	1	0	0
SKA1	220134	broad.mit.edu	37	18	47917649	47917649	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:47917649C>T	ENST00000285116.3	+	6	816	c.605C>T	c.(604-606)aCg>aTg	p.T202M	SKA1_ENST00000417656.2_Missense_Mutation_p.T156M|SKA1_ENST00000488454.1_Missense_Mutation_p.T51M|SKA1_ENST00000398452.2_Missense_Mutation_p.T202M	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	202					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						GATGAAGAAACGAAGGATACC	0.328000													13	79					0	0	1	0	0
LY6K	54742	broad.mit.edu	37	8	143784549	143784549	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:143784549C>T	ENST00000519387.1	+	3	640	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	CTD-2292P10.4_ENST00000520572.1_RNA|LY6K_ENST00000561179.1_Silent_p.S144S|LY6K_ENST00000522591.1_3'UTR|LY6K_ENST00000519390.1_3'UTR|LY6K_ENST00000292430.6_Silent_p.S86S			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	0	UPAR/Ly6.					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGCAGTGCTCCGCTGGTTGTG	0.483000													6	62					0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44096027	44096027	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:44096027G>T	ENST00000344290.5	+	14	2368	c.2046G>T	c.(2044-2046)aaG>aaT	p.K682N	MAPT_ENST00000262410.5_Missense_Mutation_p.K664N|MAPT_ENST00000415613.2_Missense_Mutation_p.K682N|MAPT_ENST00000347967.5_Missense_Mutation_p.K222N|MAPT_ENST00000420682.2_Missense_Mutation_p.K318N|MAPT_ENST00000535772.1_Missense_Mutation_p.K316N|MAPT_ENST00000574436.1_Missense_Mutation_p.K347N|MAPT_ENST00000576518.1_Missense_Mutation_p.K247N|MAPT_ENST00000334239.8_Missense_Mutation_p.K258N|MAPT_ENST00000446361.3_Missense_Mutation_p.K289N|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000571987.1_Missense_Mutation_p.K664N|MAPT_ENST00000431008.3_Missense_Mutation_p.K316N|MAPT_ENST00000340799.5_Missense_Mutation_p.K318N|MAPT_ENST00000351559.5_Missense_Mutation_p.K347N	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	664					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				TTGACTTCAAGGACAGAGTCC	0.507000													10	162					2.27111e-07	2.52377e-07	1	1	0
TUBA1A	7846	broad.mit.edu	37	12	49579179	49579179	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:49579179C>T	ENST00000301071.7	-	4	1314	c.970G>A	c.(970-972)Gtt>Att	p.V324I	TUBA1A_ENST00000550767.1_Missense_Mutation_p.V289I|TUBA1A_ENST00000295766.5_Missense_Mutation_p.V324I	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	324					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						TCTTTGGGAACCACGTCACCA	0.512000													19	76					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40419850	40419850	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:40419850A>G	ENST00000221347.6	-	6	3151	c.3144T>C	c.(3142-3144)tgT>tgC	p.C1048C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1048	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCAGCTTGGGACAGTCACCCG	0.627000													15	70					0	0	1	0	0
LZTS2	84445	broad.mit.edu	37	10	102763689	102763689	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:102763689C>T	ENST00000370220.1	+	2	3897	c.834C>T	c.(832-834)tcC>tcT	p.S278S	LZTS2_ENST00000370223.3_Silent_p.S278S			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	278	Required for centrosomal localization (By similarity).|Ser-rich.				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGTCCTCCTCCAGCAAGAGCA	0.701000													23	41					0	0	1	0	0
WDPCP	51057	broad.mit.edu	37	2	63631215	63631215	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:63631215C>T	ENST00000409120.1	-	4	4377	c.827G>A	c.(826-828)aGa>aAa	p.R276K	WDPCP_ENST00000409562.3_Missense_Mutation_p.R468K|WDPCP_ENST00000409199.1_Missense_Mutation_p.R276K|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000272321.7_Missense_Mutation_p.R468K|WDPCP_ENST00000398544.3_Missense_Mutation_p.R309K			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	468					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						CAAAGGTCCTCTTTCAAACCT	0.383000													8	94					0	0	1	0	0
NAGS	162417	broad.mit.edu	37	17	42084749	42084749	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:42084749G>A	ENST00000293404.3	+	5	1273	c.1155G>A	c.(1153-1155)aaG>aaA	p.K385K		NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	385	N-acetyltransferase.				arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)	L-Glutamic Acid(DB00142)	GCCTGGACAAGCTGGACCAGG	0.662000											OREG0024449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	38					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23526896	23526896	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:23526896C>A	ENST00000296682.3	+	11	1881	c.1699C>A	c.(1699-1701)Ctc>Atc	p.L567I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	567					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAAGTCACACCTCCTCATTCA	0.542000										HNSCC(3;0.000094)			30	118					4.43304e-23	5.3978e-23	1	1	0
SLC36A1	206358	broad.mit.edu	37	5	150847346	150847346	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:150847346C>T	ENST00000243389.3	+	7	806	c.583C>T	c.(583-585)Cga>Tga	p.R195*	SLC36A1_ENST00000429484.2_Nonsense_Mutation_p.R195*|SLC36A1_ENST00000521925.1_Nonsense_Mutation_p.R195*|SLC36A1_ENST00000520701.1_Nonsense_Mutation_p.R195*	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	195					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	CATGGACTCGCGACTCTACAT	0.532000													24	131					0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121747584	121747584	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:121747584T>C	ENST00000261819.3	-	16	2097	c.1976A>G	c.(1975-1977)gAc>gGc	p.D659G	ANAPC5_ENST00000535482.1_Missense_Mutation_p.D325G|ANAPC5_ENST00000441917.2_Missense_Mutation_p.D547G|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Missense_Mutation_p.D547G|ANAPC5_ENST00000541887.1_Missense_Mutation_p.D646G	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	659					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACGACCTTTGTCCAGGATAGC	0.512000													6	104					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73021145	73021145	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:73021145C>T	ENST00000263674.3	+	1	1812	c.1462C>T	c.(1462-1464)Cga>Tga	p.R488*		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	488					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GCTGAGGGTCCGAAAACCTGG	0.582000													16	56					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33626605	33626605	+	Splice_Site	SNP	C	C	T	rs116499996	byFrequency	TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:33626605C>T	ENST00000374316.5	+	6	1588	c.528_splice	c.e6+1	p.N176_splice	ITPR3_ENST00000605930.1_Splice_Site_p.N176_splice			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	176	MIR 2.				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						ACGGGGACAACGTGAGGGCAG	0.612000													14	130					0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17388159	17388159	+	Splice_Site	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:17388159G>C	ENST00000380647.3	+	14	2071		c.e14-1		CNTLN_ENST00000425824.1_Splice_Site|CNTLN_ENST00000262360.5_Splice_Site			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein							centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TTCTCTACCAGAACAGCTCTT	0.363000													19	97					0	0	1	0	0
RHOJ	57381	broad.mit.edu	37	14	63747784	63747784	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:63747784C>T	ENST00000316754.3	+	3	795	c.333C>T	c.(331-333)gtC>gtT	p.V111V	RHOJ_ENST00000555125.1_Silent_p.V111V	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	111					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		ACCACAATGTCCAGGAGGAAT	0.552000													8	76					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744643	70744643	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:70744643G>A	ENST00000260126.3	-	2	972	c.266C>T	c.(265-267)tCg>tTg	p.S89L	SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.S89L|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.S89L	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	89						integral to membrane|plasma membrane	transporter activity	p.S89L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GAGCCCCGCCGAAGTGGACGG	0.642000											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	43					0	0	1	0	0
PHF19	26147	broad.mit.edu	37	9	123628312	123628312	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:123628312A>T	ENST00000373896.3	-	8	1025	c.773T>A	c.(772-774)cTg>cAg	p.L258Q	PHF19_ENST00000419155.1_Missense_Mutation_p.L49Q|PHF19_ENST00000487555.1_5'UTR	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCACCATCGCAGGGGCAGCCT	0.607000													7	71					0	0	1	0	0
ZNF710	374655	broad.mit.edu	37	15	90611280	90611280	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:90611280A>G	ENST00000268154.4	+	2	1162	c.911A>G	c.(910-912)tAc>tGc	p.Y304C		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GAGAAGTCCTACACGTCCAAG	0.607000													9	89					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767445	57767445	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:57767445C>T	ENST00000371030.2	+	1	1371	c.1371C>T	c.(1369-1371)cgC>cgT	p.R457R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	457						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TTGACATCCGCGCGCTGGAGC	0.677000													3	33					0	0	1	0	0
SOAT2	8435	broad.mit.edu	37	12	53517521	53517521	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:53517521A>G	ENST00000301466.3	+	14	1442	c.1382A>G	c.(1381-1383)aAc>aGc	p.N461S		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	461					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						GGAATGTTGAACTTCATGATG	0.562000													12	55					0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6622930	6622930	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:6622930C>T	ENST00000285599.3	+	19	2984	c.2948C>T	c.(2947-2949)cCc>cTc	p.P983L	MAN2B2_ENST00000504248.1_Missense_Mutation_p.P932L	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	983					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						ACCACCTCTCCCTCGAGGCCA	0.602000													16	72					0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53544496	53544496	+	Silent	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:53544496G>T	ENST00000371500.3	+	10	1742	c.1401G>T	c.(1399-1401)tcG>tcT	p.S467S	PODN_ENST00000312553.5_Silent_p.S486S|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Silent_p.S344S	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	438					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGGACCTGTCGGGCAACCGGC	0.662000													8	61					0.000274275	0.000287956	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21805079	21805079	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:21805079C>T	ENST00000328843.6	+	56	9026	c.8995C>T	c.(8995-8997)Ctg>Ttg	p.L2999L	DNAH11_ENST00000409508.3_Silent_p.L2992L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2999	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGGTCGCACGCTGAGAGTTAG	0.527000									Kartagener syndrome				10	159					0	0	1	0	0
ZNF512	84450	broad.mit.edu	37	2	27806526	27806526	+	Splice_Site	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:27806526C>T	ENST00000355467.4	+	2	115	c.30_splice	c.e2-1	p.T11_splice	ZNF512_ENST00000416005.2_Splice_Site_p.T11_splice|ZNF512_ENST00000494548.1_Intron|ZNF512_ENST00000379717.1_Splice_Site_p.T11_splice|ZNF512_ENST00000413371.2_5'UTR|ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA			Q96ME7	ZN512_HUMAN	zinc finger protein 512	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					ATTTGCTAGACTTCGGGACCC	0.488000													3	36					0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187698688	187698688	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:187698688C>T	ENST00000295131.2	-	6	852	c.813G>A	c.(811-813)acG>acA	p.T271T		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	271					apoptosis		zinc ion binding	p.T271T(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GAAATGTAAACGTGTGGGAAA	0.363000													10	45					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195711466	195711466	+	RNA	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:195711466G>T	ENST00000427841.1	-	0	481					NR_003264.2																						GCCCATCACCGCGACCATGGC	0.582000													4	66					0.00909568	0.00931162	1	1	0
COPS7A	50813	broad.mit.edu	37	12	6838547	6838547	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:6838547T>C	ENST00000543155.1	+	5	944	c.462T>C	c.(460-462)gtT>gtC	p.V154V	COPS7A_ENST00000539735.1_Silent_p.V154V|COPS7A_ENST00000538410.1_Silent_p.V154V|COPS7A_ENST00000534877.1_Silent_p.V154V|COPS7A_ENST00000534947.1_Silent_p.V154V|COPS7A_ENST00000542150.1_3'UTR|COPS7A_ENST00000229251.3_Silent_p.V154V	NM_001164094.1	NP_001157566.1	Q9UBW8	CSN7A_HUMAN	COP9 signalosome subunit 7A	154	PCI.				cullin deneddylation	cytoplasm|signalosome				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						GGCTCGAGGTTGACTACAGCA	0.607000													18	73					0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86905193	86905193	+	Splice_Site	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:86905193G>A	ENST00000376238.4	-	11	1074	c.1023_splice	c.e11-1	p.T342_splice	SLC28A3_ENST00000537648.1_Splice_Site_p.T273_splice	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	342					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TGGAGACTCCGTCTGGAGACA	0.488000													8	55					0	0	1	0	0
DHX36	170506	broad.mit.edu	37	3	153998377	153998377	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:153998377T>C	ENST00000496811.1	-	22	2638	c.2558A>G	c.(2557-2559)aAa>aGa	p.K853R	DHX36_ENST00000329463.5_Missense_Mutation_p.K839R|DHX36_ENST00000308361.6_Missense_Mutation_p.K824R|DHX36_ENST00000544526.1_Missense_Mutation_p.K839R	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	853						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CATTTTTCTTTTTTTACCCAA	0.299000													19	88					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25346812	25346812	+	RNA	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:25346812C>A	ENST00000546682.1	+	0	1475				SNORD116-27_ENST00000516087.1_RNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						GAGCTGAGGTCCAGCACAGAG	0.423000													6	48					0.00198382	0.00204991	1	1	0
GOLIM4	27333	broad.mit.edu	37	3	167754633	167754633	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:167754633C>T	ENST00000470487.1	-	8	1523	c.834G>A	c.(832-834)gaG>gaA	p.E278E	GOLIM4_ENST00000309027.4_Silent_p.E250E	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	278					transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCTCCTGCACCTCTCGGGTTG	0.488000													27	133					0	0	1	0	0
RAP2B	5912	broad.mit.edu	37	3	152880854	152880854	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:152880854C>T	ENST00000323534.2	+	1	826	c.372C>T	c.(370-372)cgC>cgT	p.R124R		NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	124					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AGGGTGAGCGCGAGGTCTCGT	0.617000													11	54					0	0	1	0	0
ISOC2	79763	broad.mit.edu	37	19	55966454	55966454	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:55966454C>A	ENST00000438389.2	-	4	1063	c.229G>T	c.(229-231)Gct>Tct	p.A77S	ISOC2_ENST00000425675.2_Missense_Mutation_p.A147S|ISOC2_ENST00000085068.3_Missense_Mutation_p.A163S	NM_001136202.1	NP_001129674.1	Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	147					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		CGGGCCAGAGCCACCAGCCGG	0.647000													3	39					0.00024832	0.000261327	1	1	0
GATA2	2624	broad.mit.edu	37	3	128205169	128205169	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:128205169T>C	ENST00000341105.2	-	3	603	c.272A>G	c.(271-273)cAc>cGc	p.H91R	GATA2_ENST00000430265.2_Missense_Mutation_p.H91R|GATA2_ENST00000487848.1_Missense_Mutation_p.H91R	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	91					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		ACCCGGGCTGTGCAACAAGTG	0.657000			Mis		AML(CML blast transformation)								3	7					0	0	1	0	0
RGS20	8601	broad.mit.edu	37	8	54866716	54866716	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:54866716C>T	ENST00000297313.3	+	5	916	c.824C>T	c.(823-825)gCa>gTa	p.A275V	RGS20_ENST00000276500.4_Missense_Mutation_p.A128V|RGS20_ENST00000522225.1_Missense_Mutation_p.A9V|RGS20_ENST00000344277.6_Missense_Mutation_p.A160V|RGS20_ENST00000517405.1_3'UTR	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	275	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GGAAGGAATGCATTCCGTGAA	0.443000													8	65					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181680155	181680155	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:181680155A>G	ENST00000526775.1	+	8	1286	c.1121A>G	c.(1120-1122)cAg>cGg	p.Q374R	CACNA1E_ENST00000367573.2_Missense_Mutation_p.Q374R|CACNA1E_ENST00000358338.5_Missense_Mutation_p.Q325R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.Q325R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.Q374R|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Missense_Mutation_p.Q374R	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	374	Binding to the beta subunit (By similarity).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGGCGCCAGCAGCAGATTGAG	0.557000													9	142					0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108060038	108060038	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:108060038A>G	ENST00000278612.8	-	6	456	c.351T>C	c.(349-351)atT>atC	p.I117I		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	117	Interaction with MIZF.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGATTTCTGCAATTCCAGTTC	0.418000													21	102					0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147588246	147588246	+	Silent	SNP	A	A	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:147588246A>C	ENST00000367481.3	+	7	765	c.657A>C	c.(655-657)acA>acC	p.T219T	STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000546097.1_Silent_p.T219T|STXBP5_ENST00000321680.6_Silent_p.T219T|STXBP5_ENST00000367480.3_Silent_p.T219T	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	219					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AATCTGGAACAGTAGTTTTAT	0.318000													27	126					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128302077	128302077	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:128302077C>T	ENST00000262462.4	+	1	1257	c.247C>T	c.(247-249)Cag>Tag	p.Q83*	SLC27A6_ENST00000395266.1_Nonsense_Mutation_p.Q83*|SLC27A6_ENST00000506176.1_Nonsense_Mutation_p.Q83*			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	83					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CTACACCTATCAGGATGTAGA	0.498000													8	74					0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4911085	4911085	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:4911085C>T	ENST00000396658.4	+	6	1795	c.1092C>T	c.(1090-1092)cgC>cgT	p.R364R	UBN1_ENST00000262376.6_Silent_p.R364R|UBN1_ENST00000585857.1_3'UTR|UBN1_ENST00000545171.1_Silent_p.R364R|UBN1_ENST00000590769.1_Silent_p.R364R	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	364					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TGGAGAAGCGCGTTAAGGAGC	0.577000													8	41					0	0	1	0	0
CNOT2	4848	broad.mit.edu	37	12	70732532	70732532	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:70732532G>C	ENST00000551483.1	+	2	4216	c.61G>C	c.(61-63)Gac>Cac	p.D21H	CNOT2_ENST00000418359.3_Missense_Mutation_p.D370H|CNOT2_ENST00000229195.3_Missense_Mutation_p.D370H			Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	370					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			AGCAGAGACAGACCCAGGAAT	0.428000													11	82					0	0	1	0	0
GLRA4	441509	broad.mit.edu	37	X	102968475	102968475	+	Silent	SNP	A	A	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:102968475A>C	ENST00000372617.4	-	8	1476	c.1056T>G	c.(1054-1056)ctT>ctG	p.L352L	TMEM31_ENST00000319560.6_Intron	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	352						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GCCTTCTTCGAAGTCGTATGA	0.517000													16	28					0	0	1	0	0
EXOC7	23265	broad.mit.edu	37	17	74084855	74084855	+	Silent	SNP	G	G	C	rs140093104	by1000genomes	TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:74084855G>C	ENST00000607838.1	-	10	1360	c.1266C>G	c.(1264-1266)ctC>ctG	p.L422L	EXOC7_ENST00000405575.4_Silent_p.L422L|EXOC7_ENST00000589210.1_Silent_p.L399L|EXOC7_ENST00000411744.2_Silent_p.L391L|EXOC7_ENST00000335146.7_Silent_p.L450L|EXOC7_ENST00000332065.5_Silent_p.L368L|EXOC7_ENST00000467929.2_Silent_p.L358L	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	450					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			CACATACCTGGAGCACCTGGT	0.627000													17	96					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55502029	55502029	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:55502029G>A	ENST00000543010.1	+	10	2840	c.2697G>A	c.(2695-2697)ctG>ctA	p.L899L	NLRP2_ENST00000586512.1_3'UTR|NLRP2_ENST00000263437.6_Silent_p.L896L|NLRP2_ENST00000339757.7_Silent_p.L877L|NLRP2_ENST00000537859.1_Silent_p.L877L|NLRP2_ENST00000427260.2_Silent_p.L876L|NLRP2_ENST00000448584.2_Silent_p.L899L|NLRP2_ENST00000391721.4_Silent_p.L875L|NLRP2_ENST00000538819.1_Silent_p.L875L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	899					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGTGTAAACTGCAGACCTTGG	0.562000													9	75					0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75601361	75601361	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:75601361C>T	ENST00000549446.1	-	2	1083	c.403G>A	c.(403-405)Gag>Aag	p.E135K	KCNC2_ENST00000341669.3_Missense_Mutation_p.E135K|KCNC2_ENST00000298972.1_Missense_Mutation_p.E135K|KCNC2_ENST00000393288.2_Missense_Mutation_p.E135K|KCNC2_ENST00000548513.1_Missense_Mutation_p.E135K|KCNC2_ENST00000550433.1_Missense_Mutation_p.E135K|KCNC2_ENST00000350228.2_Missense_Mutation_p.E135K|KCNC2_ENST00000540018.1_Missense_Mutation_p.E135K	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	135					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AGCTCCTCCTCGAAGAGCGGC	0.662000													6	42					0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30825465	30825465	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:30825465G>A	ENST00000265299.6	+	4	597	c.520G>A	c.(520-522)Gtg>Atg	p.V174M	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	174										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGAAACTCCTGTGTTGACTTC	0.478000													24	119					0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167656103	167656103	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:167656103T>C	ENST00000357154.3	-	12	1417	c.1280A>G	c.(1279-1281)gAt>gGt	p.D427G	SPOCK3_ENST00000357545.4_Missense_Mutation_p.D424G|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Missense_Mutation_p.D329G|SPOCK3_ENST00000506886.1_Missense_Mutation_p.D427G|SPOCK3_ENST00000511531.1_Missense_Mutation_p.D427G|SPOCK3_ENST00000504953.1_Missense_Mutation_p.D424G|SPOCK3_ENST00000541637.1_Missense_Mutation_p.D329G|SPOCK3_ENST00000511269.1_Missense_Mutation_p.D424G|SPOCK3_ENST00000541354.1_Missense_Mutation_p.D307G|SPOCK3_ENST00000421836.2_Missense_Mutation_p.D376G|SPOCK3_ENST00000535728.1_Missense_Mutation_p.D295G|SPOCK3_ENST00000502330.1_Missense_Mutation_p.D427G|SPOCK3_ENST00000534949.1_Missense_Mutation_p.D331G|SPOCK3_ENST00000510741.1_Missense_Mutation_p.D384G	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	427	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	p.D424G(3)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		atcaccaccatcatcatcatc	0.303000													13	51					0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51728598	51728598	+	Silent	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:51728598C>A	ENST00000262262.4	+	2	183	c.162C>A	c.(160-162)tcC>tcA	p.S54S	CD33_ENST00000391796.3_Silent_p.S54S|CD33_ENST00000421133.2_Intron|CD33_ENST00000436584.2_Intron	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	54	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	ACAAGAACTCCCCAGTTCATG	0.532000													31	115					1.88708e-17	2.28206e-17	1	1	0
TPTE2	93492	broad.mit.edu	37	13	20049725	20049725	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr13:20049725G>T	ENST00000400230.2	-	5	262	c.218C>A	c.(217-219)tCc>tAc	p.S73Y	TPTE2_ENST00000382978.1_Missense_Mutation_p.S73Y|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382975.4_Missense_Mutation_p.S73Y|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382977.4_Missense_Mutation_p.S73Y|TPTE2_ENST00000400103.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	73						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAATGCAAAGGATGATACAAT	0.348000													5	39					3.59834e-05	3.86504e-05	1	1	0
PRR5	55615	broad.mit.edu	37	22	45121160	45121160	+	Silent	SNP	G	G	A	rs139168828	by1000genomes	TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr22:45121160G>A	ENST00000403581.1	+	5	930	c.321G>A	c.(319-321)acG>acA	p.T107T	PRR5_ENST00000477331.1_Intron|ARHGAP8_ENST00000517296.3_Silent_p.T84T|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.T84T|PRR5_ENST00000336985.6_Silent_p.T84T|ARHGAP8_ENST00000389773.5_Silent_p.T75T|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.T84T	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		CCTTCTTCACGGAGTACCTGC	0.642000													5	61					0	0	1	0	0
NUCB1	4924	broad.mit.edu	37	19	49416366	49416366	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:49416366A>G	ENST00000405315.4	+	6	913	c.579A>G	c.(577-579)tcA>tcG	p.S193S	NUCB1_ENST00000407032.1_Silent_p.S193S|NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000263273.5_Silent_p.S193S|NUCB1_ENST00000485798.1_Intron	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	193						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		ATCTGGAGTCACTGGGAGAGG	0.592000													26	84					0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51672255	51672255	+	Missense_Mutation	SNP	A	A	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:51672255A>C	ENST00000409535.1	+	11	1903	c.1778A>C	c.(1777-1779)cAg>cCg	p.Q593P	RAD54L2_ENST00000296477.3_Missense_Mutation_p.Q287P	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	593						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TTGTATACACAGTTCATGGAT	0.537000											OREG0015596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	49					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370506	240370506	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:240370506C>T	ENST00000319653.9	+	5	2624	c.2394C>T	c.(2392-2394)ctC>ctT	p.L798L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	798	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGTCCAGCTCGACAGCCATC	0.572000													11	116					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10409179	10409179	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:10409179G>C	ENST00000226207.5	-	19	2218	c.2124C>G	c.(2122-2124)atC>atG	p.I708M	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	708	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTTCCTGCAGATGCGGATGC	0.428000													10	70					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97137903	97137903	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:97137903G>A	ENST00000524981.3	+	22	3016	c.3016G>A	c.(3016-3018)Gcc>Acc	p.A1006T				Q6ZTY8	CL063_HUMAN		980										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CATGTTATTGGCCAAAATAAA	0.294000													10	26					0	0	1	0	0
CSK	1445	broad.mit.edu	37	15	75091004	75091004	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:75091004G>A	ENST00000220003.9	+	3	793	c.64G>A	c.(64-66)Ggc>Agc	p.G22S	CSK_ENST00000439220.2_Missense_Mutation_p.G22S|CSK_ENST00000309470.9_Missense_Mutation_p.G22S|CSK_ENST00000567571.1_Missense_Mutation_p.G22S	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	22	Interaction with PTPN8 (By similarity).|SH3.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						CAACTTCCACGGCACTGCCGA	0.632000													4	50					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181765963	181765963	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:181765963G>T	ENST00000526775.1	+	45	6347	c.6182G>T	c.(6181-6183)aGt>aTt	p.S2061I	CACNA1E_ENST00000367573.2_Missense_Mutation_p.S2123I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S2012I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S2074I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S2104I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1687I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S2080I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2123					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGGTCACCCAGTGAGGGCAGG	0.582000													6	23					0.00116845	0.00121162	1	1	0
LCE1C	353133	broad.mit.edu	37	1	152777925	152777925	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:152777925G>T	ENST00000368768.1	-	2	80	c.30C>A	c.(28-30)tgC>tgA	p.C10*	LCE1C_ENST00000607093.1_Nonsense_Mutation_p.C10*	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	10					keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gagggGGCTGGCACTGCTGCT	0.617000													9	55					3.09899e-07	3.43511e-07	1	1	0
RPS6KC1	26750	broad.mit.edu	37	1	213277840	213277840	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:213277840G>A	ENST00000366960.3	+	4	457	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.E91K|RPS6KC1_ENST00000543470.1_5'UTR|RPS6KC1_ENST00000543354.1_5'UTR|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	103	PX.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ACAATGTGCTGAAGACCTGCT	0.353000													24	116					0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25222048	25222048	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:25222048G>T	ENST00000444203.2	+	5	1343	c.304G>T	c.(304-306)Gct>Tct	p.A102S	SNRPN_ENST00000554227.2_Missense_Mutation_p.A102S|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000577565.1_Missense_Mutation_p.A98S|SNRPN_ENST00000346403.6_Missense_Mutation_p.A98S|SNRPN_ENST00000400100.1_Missense_Mutation_p.A98S|SNRPN_ENST00000400097.1_Missense_Mutation_p.A98S|SNRPN_ENST00000400098.1_Missense_Mutation_p.A98S|SNRPN_ENST00000390687.4_Missense_Mutation_p.A98S			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	98					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GGTACCACTTGCTGGAGCTGC	0.502000									Prader-Willi syndrome				13	87					7.93312e-07	8.74424e-07	1	1	0
OR5D13	390142	broad.mit.edu	37	11	55541587	55541587	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:55541587C>T	ENST00000361760.1	+	1	674	c.674C>T	c.(673-675)aCt>aTt	p.T225I		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CTTATTTTCACTACCATTATG	0.433000													6	90					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5042417	5042417	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:5042417G>T	ENST00000304328.5	+	14	2929	c.68G>T	c.(67-69)cGt>cTt	p.R23L	USP6_ENST00000574788.1_Intron|USP6_ENST00000250066.6_Intron|USP6_ENST00000332776.4_Intron			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	0					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GACTACAGGCGTGTCGTCAGT	0.657000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								14	30					3.27435e-08	3.68495e-08	1	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84607103	84607103	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:84607103C>T	ENST00000344803.2	+	4	1765	c.1718C>T	c.(1717-1719)cCa>cTa	p.P573L		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		GGTCAGTCCCCACATCTCACT	0.527000													7	87					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43891222	43891222	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:43891222T>C	ENST00000562955.1	+	19	2723	c.2723T>C	c.(2722-2724)gTg>gCg	p.V908A	SZT2_ENST00000372442.1_Missense_Mutation_p.V66A	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	908						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GTCACTGAGGTGTGGGTGGAG	0.562000													6	120					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156524033	156524033	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:156524033G>A	ENST00000361170.2	-	13	1452	c.1442C>T	c.(1441-1443)gCc>gTc	p.A481V		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	481					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCACCGCTGGGCATTTTCTCC	0.587000													20	144					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25346813	25346813	+	RNA	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:25346813C>T	ENST00000546682.1	+	0	1475				SNORD116-27_ENST00000516087.1_RNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						AGCTGAGGTCCAGCACAGAGA	0.428000													7	46					0	0	1	0	0
NDN	4692	broad.mit.edu	37	15	23932043	23932043	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:23932043A>G	ENST00000331837.4	-	1	407	c.322T>C	c.(322-324)Tac>Cac	p.Y108H		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	108	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		ACCAGCACGTACCACATGAGC	0.652000									Prader-Willi syndrome				10	72					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72198792	72198792	+	Silent	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:72198792C>A	ENST00000537465.1	-	3	194	c.36G>T	c.(34-36)gtG>gtT	p.V12V	PMFBP1_ENST00000543746.1_5'UTR|PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000237353.10_Silent_p.V12V			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	12										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TCAGGCTGCTCACTTCTCTGT	0.458000													11	52					3.07112e-06	3.35583e-06	1	1	0
COL11A2	1302	broad.mit.edu	37	6	33154517	33154517	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:33154517C>T	ENST00000341947.2	-	5	912	c.685G>A	c.(685-687)Gag>Aag	p.E229K	COL11A2_ENST00000374713.1_Missense_Mutation_p.E229K|COL11A2_ENST00000374714.1_Missense_Mutation_p.E229K|COL11A2_ENST00000395194.1_Missense_Mutation_p.E229K|COL11A2_ENST00000357486.1_Missense_Mutation_p.E229K|COL11A2_ENST00000374712.1_Missense_Mutation_p.E229K|COL11A2_ENST00000374708.4_Missense_Mutation_p.E229K|COL11A2_ENST00000395197.1_Missense_Mutation_p.E229K|COL11A2_ENST00000361917.1_Missense_Mutation_p.E229K	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	229	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TGGCCCCCCTCGCATTCCAGC	0.547000													33	101					0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8123115	8123115	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:8123115G>A	ENST00000305253.4	+	13	1876	c.1635G>A	c.(1633-1635)caG>caA	p.Q545Q	TUB_ENST00000299506.2_Silent_p.Q490Q|TUB_ENST00000534099.1_Silent_p.Q496Q	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	490					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GTGCACTGCAGGCCTTTGCCA	0.607000													16	49					0	0	1	0	0
C1orf158	93190	broad.mit.edu	37	1	12820845	12820845	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:12820845G>A	ENST00000288048.5	+	4	762	c.546G>A	c.(544-546)ccG>ccA	p.P182P	C1orf158_ENST00000376210.3_Silent_p.P144P	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	182								p.P182P(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ATGCGGTCCCGGTCCCTCCCC	0.587000													8	91					0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57189079	57189079	+	Splice_Site	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:57189079G>A	ENST00000607273.1	+	4	425		c.e4+1		PRIM2_ENST00000389488.2_Splice_Site	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		ATTGCCAGTCGTAAGTATATG	0.343000													5	12					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1552625	1552625	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:1552625T>C	ENST00000381605.4	-	3	556	c.492A>G	c.(490-492)acA>acG	p.T164T	SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	164	Ig-like C1-type 1.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TGAAGCTCACTGTGTGCTCAG	0.547000													27	105					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15639226	15639226	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:15639226G>A	ENST00000378076.3	-	21	2544	c.2191C>T	c.(2191-2193)Cct>Tct	p.P731S	ITGA8_ENST00000477064.1_5'UTR	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	731					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GACACCATAGGGTTCCCAAGG	0.448000													21	85					0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125461949	125461949	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:125461949C>G	ENST00000308736.2	-	5	924	c.826G>C	c.(826-828)Gag>Cag	p.E276Q	DHX37_ENST00000544745.1_Missense_Mutation_p.E63Q	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	276	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.E276K(1)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CTGCCGGTCTCACCACACACG	0.577000													17	148					0	0	1	0	0
XYLT2	64132	broad.mit.edu	37	17	48433335	48433335	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:48433335A>G	ENST00000017003.2	+	6	1331	c.1282A>G	c.(1282-1284)Aca>Gca	p.T428A	XYLT2_ENST00000507602.1_Missense_Mutation_p.T428A	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	428					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					CCAGTTCTACACATACACACT	0.612000													4	47					0	0	1	0	0
ANO8	57719	broad.mit.edu	37	19	17441757	17441757	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:17441757G>A	ENST00000159087.4	-	8	1031	c.873C>T	c.(871-873)aaC>aaT	p.N291N		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	291						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						ACCAGATCACGTTGAAGAGGG	0.577000													22	219					0	0	1	0	0
CLDN4	1364	broad.mit.edu	37	7	73245716	73245716	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:73245716T>C	ENST00000435050.1	+	2	2865	c.185T>C	c.(184-186)aTg>aCg	p.M62T	CLDN4_ENST00000431918.1_Missense_Mutation_p.M62T|CLDN4_ENST00000340958.2_Missense_Mutation_p.M62T			O14493	CLD4_HUMAN	claudin 4	62					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				ACCGGCCAGATGCAGTGCAAG	0.637000													15	64					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145435703	145435703	+	Silent	SNP	C	C	G	rs144888819		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:145435703C>G	ENST00000511217.1	+	7	1534	c.1482C>G	c.(1480-1482)ccC>ccG	p.P494P	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Silent_p.P494P			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	494							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAGTCAACCCCGTGAGAAGCA	0.572000													7	169					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100567680	100567680	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:100567680C>T	ENST00000471714.1	-	18	1671	c.1562G>A	c.(1561-1563)cGa>cAa	p.R521Q	ABI3BP_ENST00000284322.5_Missense_Mutation_p.R472Q|ABI3BP_ENST00000495063.1_Missense_Mutation_p.R521Q			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	472	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CCGGGGGCGTCGTTTAGGTGT	0.388000													13	44					0	0	1	0	0
LRRC14	9684	broad.mit.edu	37	8	145745158	145745158	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:145745158C>T	ENST00000292524.1	+	2	195	c.49C>T	c.(49-51)Cca>Tca	p.P17S	LRRC14_ENST00000529022.1_Missense_Mutation_p.P17S	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	17										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCAGTGCCAGCCAGCTGCCTG	0.632000													8	43					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688690	26688690	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr22:26688690C>T	ENST00000529632.2	+	2	609	c.413C>T	c.(412-414)tCc>tTc	p.S138F	SEZ6L_ENST00000248933.6_Missense_Mutation_p.S138F|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.S138F|SEZ6L_ENST00000360929.3_Missense_Mutation_p.S138F|SEZ6L_ENST00000343706.4_Missense_Mutation_p.S138F	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	138						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AAGGCCACCTCCGCAGCCACT	0.672000													4	23					0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8135236	8135236	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:8135236G>A	ENST00000315684.8	-	13	2377	c.2370C>T	c.(2368-2370)gaC>gaT	p.D790D		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	790					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GATCATTGTCGTCATTTCCCT	0.617000													21	146					0	0	1	0	0
AKR1E2	83592	broad.mit.edu	37	10	4879674	4879674	+	Silent	SNP	C	C	T	rs112771844		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:4879674C>T	ENST00000298375.7	+	5	554	c.483C>T	c.(481-483)acC>acT	p.T161T	AKR1E2_ENST00000334019.4_Silent_p.T161T|AKR1E2_ENST00000345253.5_Intron|AKR1E2_ENST00000532248.1_Silent_p.T161T|AKR1E2_ENST00000525281.1_3'UTR	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	161						cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						TGGTGATCACCGGGCTGGTGA	0.507000													16	76					0	0	1	0	0
RASA1	5921	broad.mit.edu	37	5	86564541	86564541	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:86564541T>C	ENST00000274376.6	+	1	837	c.273T>C	c.(271-273)acT>acC	p.T91T		NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	91					cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GGGGAGGtactgctgctggcg	0.642000													6	18					0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127702994	127702994	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:127702994A>G	ENST00000405109.1	+	6	2212	c.1745A>G	c.(1744-1746)cAg>cGg	p.Q582R	KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000405256.1_Missense_Mutation_p.Q582R|KBTBD12_ENST00000343941.4_Missense_Mutation_p.Q157R|KBTBD12_ENST00000407609.3_Missense_Mutation_p.Q189R			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	582										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TGGGAAAACCAGTGGAATGTT	0.468000													22	98					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123164167	123164167	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:123164167G>A	ENST00000264501.4	+	30	5059	c.4686G>A	c.(4684-4686)ggG>ggA	p.G1562G	KIAA1109_ENST00000388738.3_Silent_p.G1562G|KIAA1109_ENST00000455637.1_Silent_p.G1562G			Q2LD37	K1109_HUMAN	KIAA1109	1562					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCAAGCAGGGGCTCACAGCTA	0.299000													21	74					0	0	1	0	0
KRT72	140807	broad.mit.edu	37	12	52992695	52992695	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:52992695C>T	ENST00000293745.2	-	2	713	c.628G>A	c.(628-630)Gac>Aac	p.D210N	KRT72_ENST00000354310.4_Missense_Mutation_p.D210N|KRT72_ENST00000398066.3_Missense_Mutation_p.D22N|KRT72_ENST00000537672.2_Missense_Mutation_p.D210N	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	210	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TTCTTGTAGTCCTCCACCAAA	0.517000													26	124					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216496967	216496967	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:216496967A>T	ENST00000366943.2	-	8	1785	c.1399T>A	c.(1399-1401)Tac>Aac	p.Y467N	USH2A_ENST00000366942.3_Missense_Mutation_p.Y467N|USH2A_ENST00000307340.3_Missense_Mutation_p.Y467N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	467	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGTTATTGTATCCAGGACGA	0.388000										HNSCC(13;0.011)			25	170					0	0	1	0	0
OR8K1	390157	broad.mit.edu	37	11	56113901	56113901	+	Nonsense_Mutation	SNP	C	C	A	rs145345631	byFrequency	TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:56113901C>A	ENST00000279783.2	+	1	481	c.387C>A	c.(385-387)taC>taA	p.Y129*		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					ATGATCGCTACGTAGCCATCT	0.413000										HNSCC(65;0.19)			29	215					6.07407e-21	7.37566e-21	1	1	0
OR2H2	7932	broad.mit.edu	37	6	29556085	29556085	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:29556085G>A	ENST00000383640.2	+	1	403	c.364G>A	c.(364-366)Gtg>Atg	p.V122M	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	122					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						TGATCGCTACGTGGCTGTCTG	0.577000													23	116					0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75227126	75227126	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:75227126G>A	ENST00000342232.4	-	2	1149	c.1109C>T	c.(1108-1110)gCc>gTc	p.A370V		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	370	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TTTGGTTCTGGCCATGGCAGC	0.443000													12	124					0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42695111	42695111	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:42695111C>T	ENST00000397163.3	+	13	1875	c.1656C>T	c.(1654-1656)agC>agT	p.S552S	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Silent_p.S552S|CAPN3_ENST00000397200.4_Silent_p.S40S|CAPN3_ENST00000349748.3_Silent_p.S504S|CAPN3_ENST00000318023.7_Silent_p.S552S|CAPN3_ENST00000356316.3_Silent_p.S465S	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	552	Domain III.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TGCCTCCCAGCGAGTACGTCA	0.587000													15	114					0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179247976	179247976	+	Missense_Mutation	SNP	C	C	T	rs148726941		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:179247976C>T	ENST00000190611.4	+	17	2223	c.1847C>T	c.(1846-1848)tCg>tTg	p.S616L	OSBPL6_ENST00000315022.2_Missense_Mutation_p.S620L|OSBPL6_ENST00000409631.1_Missense_Mutation_p.S580L|OSBPL6_ENST00000392505.2_Missense_Mutation_p.S641L|OSBPL6_ENST00000409045.3_Missense_Mutation_p.S585L|OSBPL6_ENST00000359685.3_Missense_Mutation_p.S580L	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	616					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GACAAGGCTTCGGAAACTGAT	0.507000													11	37					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4862023	4862023	+	Splice_Site	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:4862023A>T	ENST00000399583.3	-	6	1803		c.e6+1		RADIL_ENST00000536091.1_Intron|RADIL_ENST00000538469.1_Splice_Site	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains						cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CGCCAGCCGTACCTGTGATGT	0.582000													3	14					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21779261	21779261	+	Silent	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:21779261G>T	ENST00000328843.6	+	49	7936	c.7905G>T	c.(7903-7905)gtG>gtT	p.V2635V	DNAH11_ENST00000409508.3_Silent_p.V2628V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2635	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATCCGATGGTGGGCAGCTTCA	0.423000									Kartagener syndrome				12	65					9.31168e-06	1.00938e-05	1	1	0
TTF2	8458	broad.mit.edu	37	1	117619351	117619351	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:117619351A>G	ENST00000369466.3	+	7	1523	c.1479A>G	c.(1477-1479)caA>caG	p.Q493Q		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	493					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TGCCTCCCCAACCCCTTCCTC	0.527000													6	60					0	0	1	0	0
TBCEL	219899	broad.mit.edu	37	11	120929158	120929158	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:120929158C>T	ENST00000422003.2	+	6	1005	c.817C>T	c.(817-819)Cga>Tga	p.R273*	TBCEL_ENST00000529397.1_Nonsense_Mutation_p.R273*	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	273	LRRCT.					cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		CACCGAGGAGCGAAGGAAATT	0.403000													29	122					0	0	1	0	0
CBX4	8535	broad.mit.edu	37	17	77808392	77808392	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:77808392G>A	ENST00000269397.4	-	5	1226	c.1049C>T	c.(1048-1050)cCg>cTg	p.P350L		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	350	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTCCTTGGTCGGGGACAGCTT	0.692000													6	18					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131476886	131476886	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:131476886C>T	ENST00000261654.5	+	8	1474	c.915C>T	c.(913-915)ctC>ctT	p.L305L	GPR133_ENST00000535015.1_Silent_p.L337L|RP11-76C10.5_ENST00000542980.1_lincRNA	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	305					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ATGTATCCCTCAGCTTACCCA	0.502000													30	142					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132193405	132193405	+	Silent	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:132193405G>T	ENST00000359827.3	-	2	1010	c.48C>A	c.(46-48)ctC>ctA	p.L16L	PLXNA4_ENST00000321063.4_Silent_p.L16L|PLXNA4_ENST00000378539.5_Silent_p.L16L|PLXNA4_ENST00000423507.2_Silent_p.L16L			Q9HCM2	PLXA4_HUMAN	plexin A4	16						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGCCCACCATGAGGAGGTGGG	0.642000													8	15					0.000157383	0.000166221	1	1	0
CCDC116	164592	broad.mit.edu	37	22	21989125	21989125	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr22:21989125C>T	ENST00000292779.3	+	4	934	c.773C>T	c.(772-774)cCg>cTg	p.P258L		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	258										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GCATCAGAGCCGAGGCCTGGA	0.582000													16	156					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351384	40351384	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:40351384T>A	ENST00000310169.2	+	4	990	c.851T>A	c.(850-852)cTa>cAa	p.L284Q		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	284					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	GTATTTCAGCTAATGGTGGCA	0.507000													20	171					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173567077	173567077	+	Missense_Mutation	SNP	A	A	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:173567077A>C	ENST00000367714.3	-	4	745	c.323T>G	c.(322-324)gTa>gGa	p.V108G	SLC9C2_ENST00000536496.1_Missense_Mutation_p.V6G|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	108					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ATAAAATTCTACATCCAAAGC	0.318000													21	95					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109088412	109088412	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:109088412A>G	ENST00000309863.6	+	6	3341	c.2627A>G	c.(2626-2628)cAg>cGg	p.Q876R		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	876					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						CTTGAAAATCAGAATCTTTTA	0.303000													14	56					0	0	1	0	0
HBB	3043	broad.mit.edu	37	11	5247913	5247913	+	Missense_Mutation	SNP	C	C	A	rs34718174		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:5247913C>A	ENST00000335295.3	-	2	384	c.209G>T	c.(208-210)gGt>gTt	p.G70V		NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	70			G -> D (in Rambam).|G -> R (in Kenitra).|G -> S (in City of Hope).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	ACTAAAGGCACCGAGCACTTT	0.547000									Sickle Cell Trait				15	111					2.94398e-08	3.32585e-08	1	1	0
TTN	7273	broad.mit.edu	37	2	179476318	179476318	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:179476318C>T	ENST00000589042.1	-	269	50862	c.50638G>A	c.(50638-50640)Ggt>Agt	p.G16880S	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G7815S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G14312S|TTN_ENST00000359218.5_Missense_Mutation_p.G7940S|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G15239S|TTN_ENST00000342175.6_Missense_Mutation_p.G8007S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15239	Fibronectin type-III 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGACTTCCACCATTTTTCTCT	0.448000													28	90					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57647048	57647048	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:57647048C>T	ENST00000269834.1	-	5	1042	c.657G>A	c.(655-657)gaG>gaA	p.E219E		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGGCCTTTCCTCTGCGTGAG	0.423000													42	175					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494392	55494392	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:55494392G>T	ENST00000543010.1	+	6	1469	c.1326G>T	c.(1324-1326)caG>caT	p.Q442H	NLRP2_ENST00000263437.6_Missense_Mutation_p.Q439H|NLRP2_ENST00000339757.7_Missense_Mutation_p.Q420H|NLRP2_ENST00000537859.1_Missense_Mutation_p.Q420H|NLRP2_ENST00000427260.2_Missense_Mutation_p.Q419H|NLRP2_ENST00000448584.2_Missense_Mutation_p.Q442H|NLRP2_ENST00000391721.4_Missense_Mutation_p.Q418H|NLRP2_ENST00000538819.1_Missense_Mutation_p.Q418H	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	442	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGGGCGCACAGCTGCGGGGCG	0.711000													10	26					1.3612e-06	1.49758e-06	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158592942	158592942	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:158592942C>A	ENST00000368148.3	-	43	6131	c.5951G>T	c.(5950-5952)aGa>aTa	p.R1984I	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.R1981I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1984					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCGGGAAGTCTCTCTTGCTG	0.498000													132	359					4.60929e-88	5.65133e-88	1	1	0
CFHR3	10878	broad.mit.edu	37	1	196762506	196762506	+	Missense_Mutation	SNP	A	A	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:196762506A>C	ENST00000367425.4	+	6	948	c.856A>C	c.(856-858)Agt>Cgt	p.S286R	CFHR3_ENST00000391985.3_Missense_Mutation_p.S225R	NM_021023.5	NP_066303.2			complement factor H-related 3											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						AAAAGGAAGAAGTGACAGAAA	0.269000													14	84					0	0	1	0	0
IRF4	3662	broad.mit.edu	37	6	401690	401690	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:401690G>T	ENST00000380956.4	+	7	1138	c.1012G>T	c.(1012-1014)Ggg>Tgg	p.G338W		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	338					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CTACTGGGACGGGCCCCTGGC	0.607000			T	IGH@	MM								4	51					0.00909568	0.00931162	1	1	0
SLCO4A1	28231	broad.mit.edu	37	20	61288011	61288011	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:61288011G>A	ENST00000217159.1	+	2	410	c.205G>A	c.(205-207)Gcc>Acc	p.A69T	SLCO4A1_ENST00000370507.1_Missense_Mutation_p.A69T	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	69					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			GAAGCATGGCGCCCGGGGGAC	0.731000													4	17					0	0	1	0	0
KRT16	3868	broad.mit.edu	37	17	39767353	39767353	+	Missense_Mutation	SNP	G	G	A	rs140428349		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:39767353G>A	ENST00000301653.4	-	4	965	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	301	Coil 2.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GCGTCTCTGCGGTTTTTCTCT	0.607000													36	176					0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30624499	30624499	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:30624499A>G	ENST00000376442.3	-	14	2381	c.2186T>C	c.(2185-2187)gTg>gCg	p.V729A	DHX16_ENST00000376437.5_Missense_Mutation_p.V248A	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	729	Helicase C-terminal.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						CCCTGCAGCCACCCGACCTGC	0.562000													16	63					0	0	1	0	0
MPL	4352	broad.mit.edu	37	1	43815036	43815036	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:43815036G>T	ENST00000413998.2	+	10	1571	c.1571G>T	c.(1570-1572)cGc>cTc	p.R524L	MPL_ENST00000372470.3_Intron			P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	0					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TACAGGTACCGCCCCCGCCAG	0.637000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						5	69					0.014758	0.0149955	1	1	0
TMCC3	57458	broad.mit.edu	37	12	94965348	94965348	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:94965348C>T	ENST00000261226.4	-	4	1428	c.1297G>A	c.(1297-1299)Gcg>Acg	p.A433T	TMCC3_ENST00000551457.1_Missense_Mutation_p.A402T	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	433						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						ACGAACTTCGCGATGGTGGAC	0.483000													10	130					0	0	1	0	0
EVA1B	55194	broad.mit.edu	37	1	36788029	36788029	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:36788029G>A	ENST00000270824.1	-	3	656	c.365C>T	c.(364-366)gCg>gTg	p.A122V	SH3D21_ENST00000474766.1_3'UTR|EVA1B_ENST00000490466.1_5'UTR	NM_018166.1	NP_060636.1			eva-1 homolog B (C. elegans)																		CAGCCGCTGCGCCCGCTCCAG	0.751000													4	16					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124390627	124390627	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:124390627G>A	ENST00000368909.3	+	46	5895	c.5789G>A	c.(5788-5790)gGa>gAa	p.G1930E	DMBT1_ENST00000368956.2_Missense_Mutation_p.G1302E|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1920E|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1302E|DMBT1_ENST00000338354.3_Missense_Mutation_p.G1930E|DMBT1_ENST00000359586.6_Missense_Mutation_p.G650E|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1920E	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1930	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTAGGGTGTGGACGTGCAGTT	0.552000													4	48					0	0	1	0	0
MURC	347273	broad.mit.edu	37	9	103348400	103348400	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:103348400G>A	ENST00000307584.5	+	2	827	c.762G>A	c.(760-762)agG>agA	p.R254R		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	254					cell differentiation|muscle organ development|transcription, DNA-dependent					endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				CAGGGGAGAGGTTTAAGAAAT	0.502000													21	132					0	0	1	0	0
FAM74A3	728495	broad.mit.edu	37	9	40716223	40716223	+	RNA	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:40716223G>T	ENST00000604146.1	+	0	562					NR_026801.1															endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CGTTACTGCTGCACTTGGCTG	0.443000													5	77					0.217242	0.217858	1	1	0
ARG2	384	broad.mit.edu	37	14	68114830	68114830	+	Silent	SNP	A	A	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:68114830A>C	ENST00000261783.3	+	7	969	c.789A>C	c.(787-789)acA>acC	p.T263T	VTI1B_ENST00000554659.1_3'UTR	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	263					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	CTCCAGCCACAGGAACTCCTG	0.413000													6	40					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70962016	70962016	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:70962016A>G	ENST00000357250.6	-	27	1925	c.1767T>C	c.(1765-1767)ggT>ggC	p.G589G	COL9A1_ENST00000370499.4_Silent_p.G346G|COL9A1_ENST00000320755.7_Silent_p.G346G|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	589	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CACCTGTGCTACCCTAAGGGT	0.433000													5	84					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47373650	47373650	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:47373650G>A	ENST00000285039.7	-	33	4624	c.4325C>T	c.(4324-4326)gCa>gTa	p.A1442V	MYO5B_ENST00000592688.1_Missense_Mutation_p.A12V|MYO5B_ENST00000324581.6_Missense_Mutation_p.A557V|SCARNA17_ENST00000589499.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1442					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CTGGGCCAATGCCTGGGCAGC	0.587000													10	24					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370629	35370629	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:35370629G>T	ENST00000373347.1	-	3	624	c.356C>A	c.(355-357)cCt>cAt	p.P119H	DLGAP3_ENST00000235180.4_Missense_Mutation_p.P119H			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	119					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CAGGAGTGTAGGAGGCAGGCG	0.627000													3	4					1	1	1	1	0
MS4A12	54860	broad.mit.edu	37	11	60274208	60274208	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:60274208G>C	ENST00000016913.4	+	6	653	c.596G>C	c.(595-597)gGa>gCa	p.G199A	MS4A12_ENST00000537076.1_Missense_Mutation_p.G153A	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	199						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						CAGCTTTCTGGAAAAGGCATT	0.428000													4	38					0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44598229	44598229	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:44598229G>A	ENST00000322927.2	-	3	403	c.303C>T	c.(301-303)ggC>ggT	p.G101G	ZNF335_ENST00000426788.1_Intron	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	101			G -> S (in dbSNP:rs6094231).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CTGGGGGACCGCCTGTCACCC	0.612000											OREG0025987	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	84					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169698718	169698718	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:169698718T>A	ENST00000333360.7	-	6	951	c.812A>T	c.(811-813)gAc>gTc	p.D271V	SELE_ENST00000367779.4_Missense_Mutation_p.D271V|SELE_ENST00000367782.4_Missense_Mutation_p.D271V|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367777.1_Missense_Mutation_p.D271V|SELE_ENST00000367781.4_Missense_Mutation_p.D271V|SELE_ENST00000367775.1_Missense_Mutation_p.D209V|SELE_ENST00000367774.1_Missense_Mutation_p.D271V|SELE_ENST00000367776.1_Missense_Mutation_p.D271V|SELE_ENST00000367780.4_Missense_Mutation_p.D209V	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	271	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TTCTTCACAGTCAAATGTACA	0.468000													33	147					0	0	1	0	0
CTAGE6	340307	broad.mit.edu	37	7	143453687	143453687	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:143453687A>G	ENST00000470691.2	-	1	1102	c.1065T>C	c.(1063-1065)caT>caC	p.H355H		NM_178561.4	NP_848656.2			CTAGE family, member 6													Melanoma(164;0.0903)					GATTTTTAATATGCTCTGTAA	0.299000													6	64					0	0	1	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174363163	174363163	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:174363163G>A	ENST00000251507.4	+	13	1764	c.1590G>A	c.(1588-1590)ggG>ggA	p.G530G	RABGAP1L_ENST00000367689.3_Silent_p.G177G|RABGAP1L_ENST00000357444.6_Silent_p.G493G	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	530					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GACCGAAAGGGCTGTCTACTC	0.483000													13	177					0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155236526	155236526	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:155236526C>T	ENST00000368361.4	-	7	1147	c.832G>A	c.(832-834)Gtc>Atc	p.V278I	CLK2_ENST00000361168.5_Missense_Mutation_p.V277I|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Missense_Mutation_p.V278I|CLK2_ENST00000355560.4_Missense_Mutation_p.V276I			P49760	CLK2_HUMAN	CDC-like kinase 2	278	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCACACTTGACAGCCTGGCAC	0.572000								Other conserved DNA damage response genes					4	61					0	0	1	0	0
CD48	962	broad.mit.edu	37	1	160654913	160654913	+	Missense_Mutation	SNP	G	G	A	rs7556485		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:160654913G>A	ENST00000368045.3	-	2	188	c.149C>T	c.(148-150)cCt>cTt	p.P50L	CD48_ENST00000368046.3_Missense_Mutation_p.P50L			P09326	CD48_HUMAN	CD48 molecule	50	Ig-like C2-type 1.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GTAGTTCTCAGGCAGGCTCTC	0.443000													19	86					0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116937891	116937891	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:116937891G>A	ENST00000537345.1	+	13	2183	c.1820G>A	c.(1819-1821)cGa>cAa	p.R607Q	ATP1A1_ENST00000369496.4_Missense_Mutation_p.R576Q|ATP1A1_ENST00000295598.5_Missense_Mutation_p.R607Q	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	607					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	GGCAAATGTCGAAGTGCTGGA	0.522000													16	66					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231338077	231338077	+	Missense_Mutation	SNP	T	T	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:231338077T>G	ENST00000264052.5	+	16	1823	c.1468T>G	c.(1468-1470)Tgt>Ggt	p.C490G	SP100_ENST00000409112.1_Missense_Mutation_p.C490G|SP100_ENST00000340126.4_Missense_Mutation_p.C490G	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	490					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAAGTGCTCCTGTGTCATGTG	0.433000													19	69					0	0	1	0	0
GAS7	8522	broad.mit.edu	37	17	9885172	9885172	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:9885172G>C	ENST00000396115.1	-	3	464	c.154C>G	c.(154-156)Cct>Gct	p.P52A	GAS7_ENST00000323816.4_Missense_Mutation_p.P48A|GAS7_ENST00000542249.1_Missense_Mutation_p.P57A|GAS7_ENST00000585266.1_Missense_Mutation_p.P48A|GAS7_ENST00000432992.2_Missense_Mutation_p.P112A|GAS7_ENST00000540214.1_Missense_Mutation_p.P48A|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000437099.2_Missense_Mutation_p.P48A|GAS7_ENST00000579158.1_Missense_Mutation_p.P64A	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7	112	SH3.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GGAATCCCAGGAGAACTGCTG	0.552000			T	MLL	AML*								22	83					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66102024	66102024	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:66102024C>G	ENST00000349533.6	+	20	3009	c.2824C>G	c.(2824-2826)Cta>Gta	p.L942V	LEPR_ENST00000406510.3_Missense_Mutation_p.L9V	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	942					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGTGGTCTCTCTACTTTCAAC	0.393000													16	101					0	0	1	0	0
PTCD1	26024	broad.mit.edu	37	7	99022730	99022730	+	Silent	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:99022730C>G	ENST00000292478.4	-	6	1675	c.1425G>C	c.(1423-1425)ctG>ctC	p.L475L	PTCD1_ENST00000555673.1_Silent_p.L524L|ATP5J2-PTCD1_ENST00000413834.1_Silent_p.L524L	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CCATCTTGCTCAGGAAGCCCT	0.657000													9	74					0	0	1	0	0
POU4F2	5458	broad.mit.edu	37	4	147560581	147560581	+	Splice_Site	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:147560581G>A	ENST00000281321.3	+	1	536		c.e1+1			NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2						estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					AACCCCACCGGTGCGTATTTC	0.592000													8	38					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54876127	54876127	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:54876127C>T	ENST00000333896.5	+	24	5348	c.4963C>T	c.(4963-4965)Cgc>Tgc	p.R1655C	SPTBN1_ENST00000356805.4_Missense_Mutation_p.R1668C	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1668	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TTTCAGTGAGCGCATTAGCAT	0.438000													6	19					0	0	1	0	0
DYNAP	284254	broad.mit.edu	37	18	52265362	52265362	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:52265362A>G	ENST00000321600.1	+	3	665	c.619A>G	c.(619-621)Acc>Gcc	p.T207A	DYNAP_ENST00000585973.1_Missense_Mutation_p.T155A	NM_173629.1	NP_775900.1			dynactin associated protein																		TGTTGCACCTACCGATCATTT	0.428000													16	94					0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6590910	6590910	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:6590910G>A	ENST00000433363.2	-	11	1746	c.1513C>T	c.(1513-1515)Cct>Tct	p.P505S	SLC13A5_ENST00000293800.6_Missense_Mutation_p.P488S|SLC13A5_ENST00000381074.4_Missense_Mutation_p.P462S|SLC13A5_ENST00000573648.1_Intron	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	505						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GTGGCCACAGGCAACATGAAG	0.522000													21	94					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79066967	79066967	+	Splice_Site	SNP	G	G	A	rs142180657	byFrequency	TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:79066967G>A	ENST00000388820.4	-	12	2085	c.1876_splice	c.e12+1	p.D625_splice	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	625	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGCACTCACCGTCATTGACCA	0.632000													10	59					0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21562246	21562246	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr13:21562246C>T	ENST00000382592.4	-	4	2078	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H	LATS2_ENST00000542899.1_Missense_Mutation_p.R558H	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	558					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.R558H(3)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GGCGCTTTTGCGGCTCTTGTC	0.612000													16	72					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43609990	43609990	+	Missense_Mutation	SNP	G	G	A	rs77711105		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:43609990G>A	ENST00000355710.3	+	11	2174	c.1942G>A	c.(1942-1944)Gtc>Atc	p.V648I	RET_ENST00000340058.5_Missense_Mutation_p.V648I	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	648					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CTCCTTCATCGTCTCGGTGCT	0.622000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				17	45					0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61897668	61897668	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:61897668G>A	ENST00000394818.3	+	4	871	c.669G>A	c.(667-669)tcG>tcA	p.S223S	INCENP_ENST00000278849.4_Silent_p.S223S	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	223					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTAAGAAGTCGAAGGCCAGGA	0.612000													8	70					0	0	1	0	0
YARS2	51067	broad.mit.edu	37	12	32906891	32906891	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:32906891T>C	ENST00000324868.8	-	2	935	c.908A>G	c.(907-909)tAt>tGt	p.Y303C		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	303					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	AAAGAATTGATACAATTCAAA	0.413000													29	133					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81648698	81648698	+	Silent	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:81648698A>T	ENST00000548058.1	+	16	2968	c.2058A>T	c.(2056-2058)gcA>gcT	p.A686A	ACSS3_ENST00000548324.1_Silent_p.A368A|ACSS3_ENST00000261206.3_Silent_p.A685A			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	686						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TGAAGCAAGCATAATGAGTTT	0.299000													19	47					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131371236	131371236	+	Silent	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:131371236G>T	ENST00000372739.3	+	35	4685	c.4575G>T	c.(4573-4575)cgG>cgT	p.R1525R	SPTAN1_ENST00000372731.4_Silent_p.R1525R|SPTAN1_ENST00000358161.5_Silent_p.R1525R	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1525					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TTTCTAGCCGGCGCAATGAGG	0.562000													26	169					3.28513e-13	3.88762e-13	1	1	0
MTL5	9633	broad.mit.edu	37	11	68475930	68475930	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:68475930G>T	ENST00000255087.5	-	10	1556	c.1373C>A	c.(1372-1374)gCc>gAc	p.A458D		NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	458					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GGCGCATGTGGCCTCCACCAC	0.552000													5	48					0.000602214	0.000628893	1	1	0
E2F7	144455	broad.mit.edu	37	12	77419463	77419463	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:77419463G>A	ENST00000322886.7	-	12	2675	c.2440C>T	c.(2440-2442)Cct>Tct	p.P814S	E2F7_ENST00000416496.2_Intron	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	814					cell cycle	transcription factor complex	DNA binding|identical protein binding	p.P814S(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						TGAAGCTGAGGGTCTGCAGAA	0.537000													31	117					0	0	1	0	0
C8orf82	414919	broad.mit.edu	37	8	145753438	145753438	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:145753438T>C	ENST00000524821.1	-	2	390	c.175A>G	c.(175-177)Aaa>Gaa	p.K59E	C8orf82_ENST00000313465.5_Missense_Mutation_p.K59E			Q6P1X6	CH082_HUMAN	chromosome 8 open reading frame 82	59										endometrium(1)|urinary_tract(1)	2						TTCTTCATTTTGGAATCATCC	0.582000													8	54					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653528	159653528	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:159653528G>A	ENST00000297267.9	+	11	2184	c.1984G>A	c.(1984-1986)Gcc>Acc	p.A662T	FNDC1_ENST00000340366.6_Missense_Mutation_p.A599T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	662						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCCCAAGGGCGCCTTCGCCCA	0.672000													8	45					0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53989456	53989456	+	Silent	SNP	C	C	T	rs141073519	byFrequency	TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:53989456C>T	ENST00000514921.1	+	3	518	c.405C>T	c.(403-405)tcC>tcT	p.S135S	MLIP_ENST00000358276.5_Silent_p.S129S|MLIP_ENST00000274897.5_Silent_p.S135S|MLIP_ENST00000509997.1_Silent_p.S83S|MLIP_ENST00000370876.2_Silent_p.S73S|MLIP_ENST00000370877.2_Silent_p.S83S|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000502396.1_Silent_p.S146S			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	135						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TTGTGGACTCCGAAGGGGAAG	0.502000													16	109					0	0	1	0	0
MSX1	4487	broad.mit.edu	37	4	4864600	4864600	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:4864600G>A	ENST00000382723.4	+	2	876	c.642G>A	c.(640-642)acG>acA	p.T214T	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	208					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCACTGAGACGCAGGTGAAGA	0.627000													5	45					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767782	57767782	+	Silent	SNP	C	C	T	rs6123860		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:57767782C>T	ENST00000371030.2	+	1	1708	c.1708C>T	c.(1708-1710)Ctg>Ttg	p.L570L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	570						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGTGGAGGACCTGCCAGGCAC	0.716000													9	31					0	0	1	0	0
B3GNT9	84752	broad.mit.edu	37	16	67183799	67183799	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:67183799A>G	ENST00000449549.3	-	2	1125	c.590T>C	c.(589-591)tTc>tCc	p.F197S		NM_033309.2	NP_171608.2	Q6UX72	B3GN9_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9	197					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGTGTCGTCGAAGGCCCAGAG	0.632000													3	18					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62198577	62198577	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:62198577C>T	ENST00000467148.1	-	6	2203	c.2134G>A	c.(2134-2136)Gcc>Acc	p.A712T	HELZ2_ENST00000427522.2_Missense_Mutation_p.A143T	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GTGTGCTCGGCCGCCCGGGCC	0.701000													10	35					0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169637308	169637308	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:169637308A>G	ENST00000428432.2	+	3	411	c.22A>G	c.(22-24)Aca>Gca	p.T8A	SAMD7_ENST00000335556.3_Missense_Mutation_p.T8A	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	8										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CCCTTTATTGACACCAACAGG	0.423000													15	93					0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49658971	49658971	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:49658971C>T	ENST00000249601.4	-	9	1497	c.1201G>A	c.(1201-1203)Gtg>Atg	p.V401M	ARHGAP22_ENST00000417247.2_Missense_Mutation_p.V311M|ARHGAP22_ENST00000477708.2_Missense_Mutation_p.V234M|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.V417M|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.V292M|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.V407M|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.V242M	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	401					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGCACCGCCACGGCCGCCCCG	0.726000													5	1					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17107561	17107561	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:17107561C>T	ENST00000377833.4	-	22	3150	c.3085G>A	c.(3085-3087)Gac>Aac	p.D1029N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1029	CUB 5.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TAAGCGAGGTCGGAGTCAGTC	0.433000													44	212					0	0	1	0	0
TBX21	30009	broad.mit.edu	37	17	45822716	45822716	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:45822716A>G	ENST00000177694.1	+	6	1803	c.1592A>G	c.(1591-1593)aAc>aGc	p.N531S		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	531					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAGTTTTATAACTATTTTCCC	0.488000													8	52					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37381674	37381674	+	Silent	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:37381674G>T	ENST00000361924.2	+	20	6830	c.6456G>T	c.(6454-6456)gtG>gtT	p.V2152V	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Silent_p.V2167V	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2152					Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAACAACTGTGGGGACACCTT	0.308000													13	46					2.32078e-09	2.6592e-09	1	1	0
SCAP	22937	broad.mit.edu	37	3	47470146	47470146	+	Silent	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:47470146C>A	ENST00000265565.5	-	4	679	c.267G>T	c.(265-267)ccG>ccT	p.P89P	SCAP_ENST00000545718.1_Intron|SCAP_ENST00000441517.2_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	89					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CATAAGCCACCGGGGCACCCA	0.502000													7	73					8.12818e-05	8.65701e-05	1	1	0
NEB	4703	broad.mit.edu	37	2	152466325	152466325	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:152466325C>T	ENST00000427231.2	-	81	12530	c.12328G>A	c.(12328-12330)Gat>Aat	p.D4110N	NEB_ENST00000409198.1_Missense_Mutation_p.D3867N|NEB_ENST00000604864.1_Missense_Mutation_p.D4110N|NEB_ENST00000172853.10_Missense_Mutation_p.D3867N|NEB_ENST00000397345.3_Missense_Mutation_p.D4110N|NEB_ENST00000603639.1_Missense_Mutation_p.D4110N	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	4109					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTACGTACATCACTCTGCAGG	0.473000													10	144					0	0	1	0	0
EFS	10278	broad.mit.edu	37	14	23826585	23826585	+	Silent	SNP	G	G	A	rs2231813		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:23826585G>A	ENST00000216733.3	-	6	2143	c.1536C>T	c.(1534-1536)ggC>ggT	p.G512G	EFS_ENST00000429593.2_Silent_p.G343G|EFS_ENST00000351354.3_Silent_p.G419G	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	512					cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GCAATGCCTGGCCCAGTGCTG	0.637000													14	51					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128384597	128384597	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:128384597G>C	ENST00000389524.4	+	31	4238	c.4185G>C	c.(4183-4185)caG>caC	p.Q1395H	MYO7B_ENST00000409816.2_Missense_Mutation_p.Q1395H|MYO7B_ENST00000428314.1_Missense_Mutation_p.Q1395H|MYO7B_ENST00000409090.1_Missense_Mutation_p.Q248H			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1395	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGCGAGAGCAGGTGGTGGACG	0.622000													4	13					0	0	1	0	0
COG8	84342	broad.mit.edu	37	16	69364998	69364998	+	Splice_Site	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:69364998C>T	ENST00000306875.4	-	5	1697	c.1582_splice	c.e5-1	p.G528_splice		NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	528					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GGGAGGAATGCCTAACCCAGA	0.512000													5	36					0	0	1	0	0
HTR2B	3357	broad.mit.edu	37	2	231973421	231973421	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:231973421T>A	ENST00000258400.3	-	4	1768	c.1256A>T	c.(1255-1257)aAt>aTt	p.N419I	PSMD1_ENST00000488354.1_3'UTR|PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	419					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	TGCCATTGGATTCCGGAAGTA	0.443000													14	74					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72413643	72413643	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:72413643G>A	ENST00000395270.1	+	14	3357	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	POM121_ENST00000434423.2_Silent_p.A1037A|POM121_ENST00000446813.1_Silent_p.A772A|POM121_ENST00000257622.4_Silent_p.A772A|POM121_ENST00000358357.3_Silent_p.A772A	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1037	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CGCACTCGGCGTTTGGGTTGA	0.642000													8	124					0	0	1	0	0
CALD1	800	broad.mit.edu	37	7	134643007	134643007	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:134643007A>G	ENST00000361388.2	+	11	1806	c.1340A>G	c.(1339-1341)gAc>gGc	p.D447G	CALD1_ENST00000424922.1_Missense_Mutation_p.D415G|CALD1_ENST00000417172.1_Missense_Mutation_p.D421G|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000361675.2_Missense_Mutation_p.D676G|CALD1_ENST00000393118.2_Missense_Mutation_p.D441G|CALD1_ENST00000495522.1_Missense_Mutation_p.D440G|CALD1_ENST00000422748.1_Missense_Mutation_p.D446G|CALD1_ENST00000361901.2_Missense_Mutation_p.D421G|CALD1_ENST00000543443.1_Missense_Mutation_p.D426G	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	676					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						TCCAAGATTGACAGCAGACTG	0.398000													10	107					0	0	1	0	0
CD48	962	broad.mit.edu	37	1	160654849	160654849	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:160654849G>A	ENST00000368045.3	-	2	252	c.213C>T	c.(211-213)tcC>tcT	p.S71S	CD48_ENST00000368046.3_Silent_p.S71S			P09326	CD48_HUMAN	CD48 molecule	71	Ig-like C2-type 1.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TAGATTTTCTGGAATCCCATT	0.433000													18	134					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216040427	216040427	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:216040427C>A	ENST00000366943.2	-	44	9153	c.8767G>T	c.(8767-8769)Ggt>Tgt	p.G2923C	USH2A_ENST00000307340.3_Missense_Mutation_p.G2923C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2923					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTGGAAGACCAGCTAACGTT	0.458000										HNSCC(13;0.011)			18	58					5.03518e-11	5.84518e-11	1	1	0
STC1	6781	broad.mit.edu	37	8	23709044	23709044	+	Splice_Site	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:23709044C>T	ENST00000290271.2	-	3	545	c.261_splice	c.e3-1	p.G88_splice	STC1_ENST00000524323.1_Splice_Site_p.G19_splice	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	88					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AATGCTTTTCCCTGCCATGGA	0.507000													4	49					0	0	1	0	0
RHBDF1	64285	broad.mit.edu	37	16	111421	111421	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:111421A>G	ENST00000262316.6	-	10	1499	c.1357T>C	c.(1357-1359)Tac>Cac	p.Y453H	RHBDF1_ENST00000454039.2_Missense_Mutation_p.Y453H	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	453					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TGCTGCACGTACTTGACGTTC	0.726000													6	44					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87069116	87069116	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:87069116A>T	ENST00000265723.4	-	14	1709	c.1598T>A	c.(1597-1599)cTg>cAg	p.L533Q	ABCB4_ENST00000545634.1_Missense_Mutation_p.L533Q|ABCB4_ENST00000453593.1_Missense_Mutation_p.L533Q|ABCB4_ENST00000359206.3_Missense_Mutation_p.L533Q|ABCB4_ENST00000358400.3_Missense_Mutation_p.L533Q	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	533	ABC transporter 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CCCACCACTCAGCTGGGCCCC	0.493000													19	91					0	0	1	0	0
BTBD6	90135	broad.mit.edu	37	14	105716710	105716710	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:105716710G>A	ENST00000463376.2	+	3	1475	c.934G>A	c.(934-936)Gtg>Atg	p.V312M	BTBD6_ENST00000392554.3_Missense_Mutation_p.V387M|BTBD6_ENST00000536364.1_Missense_Mutation_p.V387M|BRF1_ENST00000440513.3_Intron|BRF1_ENST00000379937.2_Intron|BRF1_ENST00000327359.3_Intron|BTBD6_ENST00000327471.3_Missense_Mutation_p.V312M|BRF1_ENST00000546474.1_Intron			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	387						cytoplasmic mRNA processing body				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		TGAGTACAGCGTGAAGATTGA	0.562000													16	58					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21765110	21765110	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:21765110A>T	ENST00000382254.1	-	12	2578	c.1492T>A	c.(1492-1494)Tgt>Agt	p.C498S	CDH12_ENST00000522262.1_Missense_Mutation_p.C458S|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.C498S|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	498	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GCATTTTCACACACGGCTGTC	0.363000										HNSCC(59;0.17)			15	103					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4513302	4513302	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:4513302C>T	ENST00000301286.3	-	3	627	c.628G>A	c.(628-630)Gtg>Atg	p.V210M		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	210	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GAGGTTTCCACGCCAGTCTGG	0.582000													25	160					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109793759	109793759	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:109793759G>A	ENST00000271332.3	+	1	1119	c.1058G>A	c.(1057-1059)gGc>gAc	p.G353D		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	353	Cadherin 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGAACCCGTGGCCCTGTGGAT	0.617000													6	58					0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92909117	92909117	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:92909117A>G	ENST00000532405.1	+	6	765	c.539A>G	c.(538-540)aAc>aGc	p.N180S	SLC24A4_ENST00000298877.1_Missense_Mutation_p.N163S|SLC24A4_ENST00000393265.2_Missense_Mutation_p.N116S|SLC24A4_ENST00000531433.1_Missense_Mutation_p.N180S|SLC24A4_ENST00000351924.5_Missense_Mutation_p.N163S			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	180						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GCTGTGTTCAACATCCTGTGC	0.607000													11	67					0	0	1	0	0
ZNF565	147929	broad.mit.edu	37	19	36674505	36674505	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:36674505G>A	ENST00000355114.5	-	5	1209	c.483C>T	c.(481-483)tgC>tgT	p.C161C	ZNF565_ENST00000392173.2_Silent_p.C121C|ZNF565_ENST00000304116.5_Silent_p.C121C			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			ACTGGCCTTCGCATTCCCAGT	0.453000													11	221					0	0	1	0	0
PCM1	5108	broad.mit.edu	37	8	17804812	17804812	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:17804812G>A	ENST00000325083.8	+	7	1340	c.901G>A	c.(901-903)Gct>Act	p.A301T	PCM1_ENST00000519253.1_Missense_Mutation_p.A301T|PCM1_ENST00000524226.1_Missense_Mutation_p.A301T|PCM1_ENST00000518537.1_Missense_Mutation_p.A340T	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	301					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GGGACGGCAGGCTGCACTTCT	0.403000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								15	113					0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	5947485	5947485	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:5947485G>A	ENST00000378156.4	-	18	2611	c.2346C>T	c.(2344-2346)caC>caT	p.H782H	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	782			H -> Q (in NPHP4).		actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCAAGCTCGTGGGAGGCCT	0.642000													6	43					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380448	147380448	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:147380448C>T	ENST00000240986.4	+	2	419	c.366C>T	c.(364-366)ggC>ggT	p.G122G	GJA8_ENST00000369235.1_Silent_p.G122G	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	122					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGACTAACGGCGGCCCGGACC	0.652000													22	99					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7808049	7808049	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:7808049C>G	ENST00000315599.7	-	7	1113	c.1091G>C	c.(1090-1092)tGg>tCg	p.W364S	CD209_ENST00000204801.8_Missense_Mutation_p.W320S|CD209_ENST00000394161.5_Missense_Mutation_p.W128S|CD209_ENST00000315591.8_Missense_Mutation_p.W340S|CD209_ENST00000354397.6_Missense_Mutation_p.W358S|CD209_ENST00000394173.4_Missense_Mutation_p.W203S|CD209_ENST00000593821.1_Missense_Mutation_p.W228S|CD209_ENST00000301357.8_Missense_Mutation_p.W228S|CD209_ENST00000602261.1_Missense_Mutation_p.W272S|CD209_ENST00000601951.1_Missense_Mutation_p.W340S|CD209_ENST00000593660.1_Missense_Mutation_p.W294S	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	364	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GTCGTCGTTCCAGCCATTGCC	0.517000													62	248					0	0	1	0	0
COQ9	57017	broad.mit.edu	37	16	57486775	57486775	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:57486775G>A	ENST00000262507.6	+	3	374	c.305G>A	c.(304-306)cGc>cAc	p.R102H	COQ9_ENST00000567072.1_Missense_Mutation_p.R102H|COQ9_ENST00000567933.1_Missense_Mutation_p.R102H	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	102					ubiquinone biosynthetic process	mitochondrion		p.R102H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TTGCAGCACCGCATCCTGACG	0.602000													24	96					0	0	1	0	0
OTP	23440	broad.mit.edu	37	5	76926520	76926520	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:76926520G>C	ENST00000306422.3	-	3	1685	c.547C>G	c.(547-549)Cag>Gag	p.Q183E		NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	183						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		GACGGGAACTGAGGCAGGCCT	0.697000													4	10					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655558	19655558	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:19655558G>A	ENST00000586018.1	+	8	2324	c.2222G>A	c.(2221-2223)cGc>cAc	p.R741H	CILP2_ENST00000291495.4_Missense_Mutation_p.R735H			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	735						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCTGAGCGCCGCCGCTGCTTC	0.697000													6	23					0	0	1	0	0
TAPT1-AS1	202020	broad.mit.edu	37	4	16258113	16258113	+	RNA	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:16258113G>A	ENST00000570786.1	+	0	468				TAPT1-AS1_ENST00000573950.1_RNA|TAPT1-AS1_ENST00000573308.1_RNA	NR_027696.1																						CACCGATGATGCGGTTGCTAG	0.572000													4	31					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1250458	1250458	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:1250458G>A	ENST00000348261.5	+	7	1254	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	CACNA1H_ENST00000358590.4_Missense_Mutation_p.A336T|CACNA1H_ENST00000565831.1_Missense_Mutation_p.A336T	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	336					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGCACGCAACGCCTGCATCAA	0.667000													7	43					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165715712	165715712	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:165715712T>C	ENST00000230301.8	-	2	119	c.99A>G	c.(97-99)ccA>ccG	p.P33P	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	33										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCTTCACTCCTGGCGTCTCGC	0.522000													24	65					0	0	1	0	0
ILF2	3608	broad.mit.edu	37	1	153636604	153636604	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:153636604A>G	ENST00000361891.4	-	10	784	c.659T>C	c.(658-660)gTt>gCt	p.V220A	ILF2_ENST00000480213.1_5'UTR	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	220	DZF.				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGAACTTTAACTCTGAAAGT	0.398000													6	21					0	0	1	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31484836	31484836	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:31484836G>A	ENST00000394863.3	+	2	218	c.88G>A	c.(88-90)Gag>Aag	p.E30K	TGFB1I1_ENST00000567607.1_Missense_Mutation_p.E13K|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.E13K|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.E13K	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	30	Interaction with PTK2B.|Transcription activation (By similarity).				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						GCGCCCTGCGGAGCCTCTCAC	0.642000													15	58					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75037090	75037090	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:75037090G>C	ENST00000401621.2	-	22	2758	c.2638C>G	c.(2638-2640)Ctt>Gtt	p.L880V	TTC18_ENST00000340329.3_Intron|TTC18_ENST00000355577.3_Missense_Mutation_p.L349V|TTC18_ENST00000394865.1_Missense_Mutation_p.L880V|TTC18_ENST00000493787.1_Intron|TTC18_ENST00000310715.3_Missense_Mutation_p.L880V			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	880							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					GGATGCAGAAGAGCTGATGAA	0.378000													9	93					0	0	1	0	0
CSNK2A1	1457	broad.mit.edu	37	20	467059	467059	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:467059C>A	ENST00000217244.3	-	13	1396	c.1021G>T	c.(1021-1023)Ggg>Tgg	p.G341W	CSNK2A1_ENST00000400217.1_Missense_Mutation_p.G205W|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.G341W|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.G341W	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	341					axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GTACTGCCCCCTGGCATGCTA	0.413000													11	49					4.68919e-08	5.27049e-08	1	1	0
TG	7038	broad.mit.edu	37	8	134144055	134144055	+	Splice_Site	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:134144055G>A	ENST00000220616.4	+	46	7902		c.e46-1		TG_ENST00000542445.1_Splice_Site|TG_ENST00000519543.1_Splice_Site|TG_ENST00000377869.1_Splice_Site	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin						hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGTTTTCTCAGCCTGGAGCTG	0.463000													19	53					0	0	1	0	0
LDLRAD3	143458	broad.mit.edu	37	11	36248960	36248960	+	Silent	SNP	C	C	T	rs116213177	byFrequency	TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:36248960C>T	ENST00000315571.5	+	5	801	c.780C>T	c.(778-780)tcC>tcT	p.S260S	LDLRAD3_ENST00000524419.1_Silent_p.S250S|LDLRAD3_ENST00000528989.1_Silent_p.S211S|LDLRAD3_ENST00000529759.1_3'UTR	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	260						integral to membrane	receptor activity	p.S260S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CCTCCTACTCCGAGGCCTTGC	0.577000													20	46					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824105	74824105	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:74824105C>T	ENST00000256362.4	+	2	860	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	207					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CCGTGTCATCCGGCCCCGCCG	0.622000													19	53					0	0	1	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113661279	113661279	+	RNA	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:113661279C>T	ENST00000393544.2	+	0	1327																											ATGCCTTCTCCGGGACAGATT	0.502000													22	50					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45825109	45825109	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr21:45825109G>A	ENST00000397928.1	+	17	3068	c.2623G>A	c.(2623-2625)Gca>Aca	p.A875T	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.A875T|TRPM2_ENST00000300481.9_Missense_Mutation_p.A855T|TRPM2_ENST00000300482.5_Missense_Mutation_p.A875T	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	875						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGACGTCGGCGCAATCTTGCT	0.612000													8	53					0	0	1	0	0
FAM178B	51252	broad.mit.edu	37	2	97543650	97543650	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:97543650G>A	ENST00000417561.3	-	20	2427	c.2428C>T	c.(2428-2430)Ctg>Ttg	p.L810L	FAM178B_ENST00000327896.3_Silent_p.L630L|FAM178B_ENST00000470789.1_5'UTR|FAM178B_ENST00000393526.2_Silent_p.L102L|FAM178B_ENST00000490605.2_Silent_p.L662L			Q8IXR5	F178B_HUMAN	family with sequence similarity 178, member B	810										large_intestine(1)|ovary(1)	2						TGGGTCAGCAGCTCCTGCCAA	0.677000													10	38					0	0	1	0	0
TCN2	6948	broad.mit.edu	37	22	31013398	31013398	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr22:31013398C>T	ENST00000215838.3	+	7	1516	c.1022C>T	c.(1021-1023)cCg>cTg	p.P341L	TCN2_ENST00000407817.3_Missense_Mutation_p.P314L|TCN2_ENST00000405742.3_Missense_Mutation_p.P337L			P20062	TCO2_HUMAN	transcobalamin II	341					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGTCTCTTGCCGCCGTACAGA	0.552000													17	56					0	0	1	0	0
POGK	57645	broad.mit.edu	37	1	166818882	166818882	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:166818882G>A	ENST00000367875.1	+	5	1426	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	POGK_ENST00000536514.1_Missense_Mutation_p.E271K|POGK_ENST00000537173.1_Missense_Mutation_p.E238K|POGK_ENST00000367876.4_Missense_Mutation_p.E356K			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	356	DDE.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						GCATGACTATGAGGTAGCTCA	0.552000													23	132					0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57982359	57982359	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:57982359A>T	ENST00000309433.6	+	1	143	c.143A>T	c.(142-144)tAc>tTc	p.Y48F		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TTGGGTATGTACCTGGTCACT	0.448000													32	157					0	0	1	0	0
CYP24A1	1591	broad.mit.edu	37	20	52775600	52775600	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:52775600C>G	ENST00000216862.3	-	8	1446	c.1053G>C	c.(1051-1053)aaG>aaC	p.K351N	CYP24A1_ENST00000395955.3_Missense_Mutation_p.K351N|CYP24A1_ENST00000395954.3_Missense_Mutation_p.K209N	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	351					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CCTTAAGAAGCTTTTGTTGCA	0.383000													27	67					0	0	1	0	0
NAGK	55577	broad.mit.edu	37	2	71300674	71300674	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:71300674G>A	ENST00000418807.3	+	5	540	c.376G>A	c.(376-378)Gct>Act	p.A126T	NAGK_ENST00000244204.5_Missense_Mutation_p.A177T|NAGK_ENST00000455662.2_Missense_Mutation_p.A223T			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	177					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	CCTAGAGGCGGCTCCTCATGA	0.527000													57	249					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143960774	143960774	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:143960774G>A	ENST00000377675.3	-	2	368	c.362C>T	c.(361-363)tCa>tTa	p.S121L	CYP11B1_ENST00000292427.4_Intron|CYP11B1_ENST00000517471.1_Intron			P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	80					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CAGTGCCTCTGAGTCCTGCCC	0.602000									Familial Hyperaldosteronism type I				13	36					0	0	1	0	0
CDH24	64403	broad.mit.edu	37	14	23517600	23517600	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:23517600G>A	ENST00000397359.3	-	13	2308	c.2049C>T	c.(2047-2049)atC>atT	p.I683I	CDH24_ENST00000267383.5_Silent_p.I683I|CDH24_ENST00000487137.2_Silent_p.I645I|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000554034.1_Silent_p.I645I	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	683					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CGTCGTAGGTGATGATGTTCT	0.692000													35	131					0	0	1	0	0
IGLL5	100423062	broad.mit.edu	37	22	23237664	23237664	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr22:23237664T>C	ENST00000532223.1	+	3	712	c.438T>C	c.(436-438)gcT>gcC	p.A146A	IGLL5_ENST00000526893.1_Silent_p.A145A|IGLL5_ENST00000531372.1_3'UTR|IGLC1_ENST00000390321.2_RNA			B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	145	C region (By similarity to lambda light- chain).|Ig-like C1-type.					extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						ACCCGGGAGCTGTGACAGTGG	0.597000													7	41					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20334220	20334220	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:20334220C>A	ENST00000302555.5	-	4	766	c.617G>T	c.(616-618)tGt>tTt	p.C206F	GP2_ENST00000381360.5_Missense_Mutation_p.C62F|GP2_ENST00000381362.4_Missense_Mutation_p.C209F|GP2_ENST00000341642.5_Missense_Mutation_p.C59F|GP2_ENST00000573897.1_5'UTR			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	209	EGF-like.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TCTGCAGAAACAGCCCCAGGT	0.597000													7	48					0.000157383	0.000166221	1	1	0
KIAA1199	57214	broad.mit.edu	37	15	81234625	81234625	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:81234625G>C	ENST00000394685.3	+	27	4065	c.3646G>C	c.(3646-3648)Gag>Cag	p.E1216Q	KIAA1199_ENST00000356249.5_Missense_Mutation_p.E1216Q|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.E1216Q			Q8WUJ3	K1199_HUMAN	KIAA1199	1216										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GGTGAAGATGGAGAGTTCCAA	0.473000													6	85					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237948050	237948050	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:237948050G>A	ENST00000366574.2	+	90	13355	c.13038G>A	c.(13036-13038)ggG>ggA	p.G4346G	RYR2_ENST00000542537.1_Silent_p.G4330G|RYR2_ENST00000360064.6_Silent_p.G4352G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4346					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)			GAGGAGATGGGGAGGAGGGAG	0.542000													23	79					0	0	1	0	0
TMEM14B	81853	broad.mit.edu	37	6	10755414	10755414	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:10755414G>C	ENST00000467317.1	+	5	337	c.242G>C	c.(241-243)aGa>aCa	p.R81T	TMEM14B_ENST00000461342.1_Missense_Mutation_p.R47T|TMEM14B_ENST00000379530.3_Missense_Mutation_p.R47T|SYCP2L_ENST00000543878.1_Intron|TMEM14B_ENST00000491103.1_3'UTR|RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000481240.1_Missense_Mutation_p.R47T|TMEM14B_ENST00000475942.1_Missense_Mutation_p.R81T|TMEM14B_ENST00000473276.1_Missense_Mutation_p.E21D|TMEM14B_ENST00000379542.5_Missense_Mutation_p.R81T			Q9NUH8	TM14B_HUMAN	transmembrane protein 14B	81						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2)	11	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)				ATGGGAATGAGATCCTACTAC	0.383000													6	68					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50455145	50455145	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:50455145G>T	ENST00000331340.3	+	6	847	c.692G>T	c.(691-693)gGc>gTc	p.G231V	IKZF1_ENST00000438033.1_Missense_Mutation_p.G144V|IKZF1_ENST00000359197.5_Intron|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000440768.2_Intron|IKZF1_ENST00000439701.1_Intron|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000343574.5_Missense_Mutation_p.G144V|IKZF1_ENST00000357364.4_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	231					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GAAAGCATGGGCCTTCCGGGC	0.572000			"""D,T"""	BCL6	"""ALL, DLBCL"""								4	17					0.014758	0.0149955	1	1	0
SLC35E3	55508	broad.mit.edu	37	12	69140321	69140321	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:69140321G>T	ENST00000398004.2	+	1	436	c.164G>T	c.(163-165)tGg>tTg	p.W55L		NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	55						integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			GTGGTCACCTGGCTGGGCTTG	0.557000													18	75					5.35267e-07	5.92581e-07	1	1	0
THBS2	7058	broad.mit.edu	37	6	169623450	169623450	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:169623450A>T	ENST00000366787.3	-	19	3143	c.2894T>A	c.(2893-2895)gTc>gAc	p.V965D	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	965	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ATCCAAGGGGACCATCTGGAA	0.488000													17	69					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934613	30934613	+	Silent	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:30934613C>G	ENST00000355537.3	+	2	291	c.144C>G	c.(142-144)ccC>ccG	p.P48P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	48					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATGCCTTCCCCGAGCTCCATC	0.667000													28	98					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40710608	40710608	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:40710608C>G	ENST00000373198.3	-	31	4487	c.4252G>C	c.(4252-4254)Gag>Cag	p.E1418Q	PTPRT_ENST00000373184.1_Missense_Mutation_p.E1406Q|PTPRT_ENST00000373190.1_Missense_Mutation_p.E1395Q|PTPRT_ENST00000373193.3_Missense_Mutation_p.E1399Q|PTPRT_ENST00000373187.1_Missense_Mutation_p.E1396Q|PTPRT_ENST00000356100.2_Missense_Mutation_p.E1405Q|PTPRT_ENST00000373201.1_Missense_Mutation_p.E1386Q	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1396	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGATCATCTCACACACACTG	0.502000													7	108					0	0	1	0	0
FAM194A	131831	broad.mit.edu	37	3	150391774	150391774	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:150391774T>C	ENST00000295910.6	-	11	1364	c.1312A>G	c.(1312-1314)Act>Gct	p.T438A	FAM194A_ENST00000491361.1_Missense_Mutation_p.T292A	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	438										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGAAATGAAGTCAGAAACTTG	0.343000													24	82					0	0	1	0	0
IFNGR2	3460	broad.mit.edu	37	21	34805028	34805028	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr21:34805028T>C	ENST00000290219.6	+	6	1377	c.729T>C	c.(727-729)acT>acC	p.T243T	IFNGR2_ENST00000405436.1_Silent_p.T164T|IFNGR2_ENST00000381995.1_Silent_p.T262T	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	243					regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	TAGCCTCCACTGAGCTTCAGC	0.468000													7	89					0	0	1	0	0
FGF2	2247	broad.mit.edu	37	4	123813514	123813514	+	Missense_Mutation	SNP	A	A	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:123813514A>C	ENST00000264498.3	+	3	898	c.830A>C	c.(829-831)aAa>aCa	p.K277T		NM_002006.4	NP_001997.5	P09038	FGF2_HUMAN	fibroblast growth factor 2 (basic)	277	Heparin-binding (By similarity).				activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing	extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	8					Pentosan Polysulfate(DB00686)	CCTGGGCAGAAAGCTATACTT	0.373000													22	116					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587853	247587853	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:247587853A>T	ENST00000366497.2	+	4	1888	c.1108A>T	c.(1108-1110)Atc>Ttc	p.I370F	NLRP3_ENST00000336119.3_Missense_Mutation_p.I370F|NLRP3_ENST00000348069.2_Missense_Mutation_p.I370F|NLRP3_ENST00000391827.2_Missense_Mutation_p.I370F|NLRP3_ENST00000391828.3_Missense_Mutation_p.I370F|NLRP3_ENST00000366496.2_Missense_Mutation_p.I370F|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	370	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCATGTGGAGATCCTGGGTTT	0.547000													33	85					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1250561	1250561	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:1250561C>T	ENST00000348261.5	+	7	1357	c.1109C>T	c.(1108-1110)gCc>gTc	p.A370V	CACNA1H_ENST00000358590.4_Missense_Mutation_p.A370V|CACNA1H_ENST00000565831.1_Missense_Mutation_p.A370V	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	370					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GCCTGGATTGCCATCTTCCAG	0.652000													5	51					0	0	1	0	0
DRC1	92749	broad.mit.edu	37	2	26654770	26654770	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:26654770C>T	ENST00000288710.2	+	7	858	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		TCTTAACAACCGCATGAAGAA	0.493000													26	106					0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50585440	50585440	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:50585440T>C	ENST00000216373.5	-	23	3895	c.3621A>G	c.(3619-3621)ccA>ccG	p.P1207P	SOS2_ENST00000543680.1_Silent_p.P1174P	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1207	Poly-Pro.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GATCTCTTGGTGGTGGCGGAG	0.532000													36	146					0	0	1	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42832508	42832508	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:42832508C>T	ENST00000314073.5	+	13	2740	c.2564C>T	c.(2563-2565)cCg>cTg	p.P855L	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.P855L					GLTSCR1-like																		TCTCTGCAACCGCCAGCCAAG	0.512000													19	73					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71944716	71944716	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:71944716G>A	ENST00000541756.1	+	19	2344	c.1414G>A	c.(1414-1416)Gtc>Atc	p.V472I	INPPL1_ENST00000538751.1_Missense_Mutation_p.V472I|INPPL1_ENST00000298229.2_Missense_Mutation_p.V714I			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	714					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGATGACATCGTCACCAGCGA	0.552000													19	105					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134072310	134072310	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:134072310C>G	ENST00000264360.4	+	1	1841	c.1015C>G	c.(1015-1017)Cct>Gct	p.P339A		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	339	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CAACGCCGTGCCTGCGCACTG	0.607000													11	119					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23532191	23532191	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:23532191C>A	ENST00000262710.1	-	14	3331	c.3004G>T	c.(3004-3006)Gtg>Ttg	p.V1002L	ACIN1_ENST00000357481.2_Missense_Mutation_p.V244L|ACIN1_ENST00000338631.6_Missense_Mutation_p.V275L|ACIN1_ENST00000397341.3_Missense_Mutation_p.V244L|ACIN1_ENST00000605057.1_Missense_Mutation_p.V944L|ACIN1_ENST00000557515.1_Missense_Mutation_p.V243L|ACIN1_ENST00000555053.1_Missense_Mutation_p.V989L|ACIN1_ENST00000457657.1_Missense_Mutation_p.V962L	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1002					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGGGAGGGCACCTGGGCAGTT	0.478000													28	124					4.87955e-14	5.80555e-14	1	1	0
ANGPTL2	23452	broad.mit.edu	37	9	129870961	129870961	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:129870961A>G	ENST00000373425.3	-	2	667	c.50T>C	c.(49-51)aTg>aCg	p.M17T	RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000373417.1_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	17					multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						AACAGCTCCCATGGCAGCCAG	0.547000													5	46					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21630859	21630859	+	Silent	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:21630859C>A	ENST00000328843.6	+	14	2362	c.2331C>A	c.(2329-2331)ctC>ctA	p.L777L	DNAH11_ENST00000409508.3_Silent_p.L777L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	777	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AACAGACGCTCCTGGAAGTTG	0.458000									Kartagener syndrome				10	56					0.0581538	0.0587855	1	1	0
MBD6	114785	broad.mit.edu	37	12	57920109	57920109	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:57920109C>A	ENST00000355673.3	+	6	1714	c.1358C>A	c.(1357-1359)cCc>cAc	p.P453H	MBD6_ENST00000431731.2_Missense_Mutation_p.P453H	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	453	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCTCCCCAGCCCAGGCACCCC	0.622000													13	50					7.03913e-09	8.01364e-09	1	1	0
EPRS	2058	broad.mit.edu	37	1	220203798	220203798	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:220203798C>A	ENST00000366923.3	-	6	822	c.553G>T	c.(553-555)Ggg>Tgg	p.G185W		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	185	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	ACAAATTTCCCAACATCTTGC	0.403000													12	37					0.0135373	0.0138346	1	1	0
PPL	5493	broad.mit.edu	37	16	4934391	4934391	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:4934391C>T	ENST00000345988.2	-	22	4354	c.4265G>A	c.(4264-4266)cGg>cAg	p.R1422Q	PPL_ENST00000590782.2_Missense_Mutation_p.R1420Q	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1422					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CTGCTGCAACCGCTGTACCTC	0.701000													26	123					0	0	1	0	0
ANP32A	8125	broad.mit.edu	37	15	69072755	69072755	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:69072755G>A	ENST00000465139.2	-	6	825	c.682C>T	c.(682-684)Ctt>Ttt	p.L228F	ANP32A_ENST00000483551.2_5'UTR	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	228	Asp/Glu-rich (highly acidic).|Interaction with E4F1 (By similarity).				intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding			endometrium(1)|large_intestine(1)|lung(2)	4						ATACCACCAAGCTCTTCTTCA	0.507000													8	44					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10089889	10089889	+	Silent	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:10089889T>A	ENST00000264828.3	-	39	2878	c.2793A>T	c.(2791-2793)ctA>ctT	p.L931L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	931	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCCTTTCACCTAGAGGTCCCA	0.612000													12	49					0	0	1	0	0
CHSY1	22856	broad.mit.edu	37	15	101719144	101719144	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:101719144C>T	ENST00000254190.3	-	3	1333	c.858G>A	c.(856-858)aaG>aaA	p.K286K	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	286					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TAATGTACCCCTTTTTGTTCT	0.398000													5	34					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189945717	189945717	+	Splice_Site	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:189945717C>T	ENST00000374866.3	-	13	1179	c.906_splice	c.e13+1	p.R302_splice		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	302					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TGAACTTACTCGGTGACCCTT	0.428000													8	74					0	0	1	0	0
TYROBP	7305	broad.mit.edu	37	19	36398431	36398431	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:36398431C>G	ENST00000585901.2	-	3	164	c.146G>C	c.(145-147)gGa>gCa	p.G49A	TYROBP_ENST00000589517.1_Missense_Mutation_p.G49A|TYROBP_ENST00000544690.2_Missense_Mutation_p.G38A|TYROBP_ENST00000262629.4_Missense_Mutation_p.G49A|TYROBP_ENST00000424586.3_Missense_Mutation_p.G38A			O43914	TYOBP_HUMAN	TYRO protein tyrosine kinase binding protein	49					axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response	integral to plasma membrane|intracellular	identical protein binding|receptor signaling protein activity			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACCAGGTCTCCCATCACGAT	0.667000													4	51					0	0	1	0	0
SLC5A4	6527	broad.mit.edu	37	22	32651308	32651308	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr22:32651308A>G	ENST00000266086.4	-	1	20	c.9T>C	c.(7-9)agT>agC	p.S3S	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	3					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGCTAACCGTACTGGCCATGG	0.512000											OREG0003502	type=REGULATORY REGION|Gene=SLC5A4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	34	187					0	0	1	0	0
DPF2	5977	broad.mit.edu	37	11	65113781	65113781	+	Missense_Mutation	SNP	A	A	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:65113781A>C	ENST00000528416.1	+	9	1101	c.968A>C	c.(967-969)cAg>cCg	p.Q323P	DPF2_ENST00000252268.4_Missense_Mutation_p.Q337P|DPF2_ENST00000415073.2_Intron	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	323					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TACCGCTGGCAGTGCATCGAG	0.557000													7	43					0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47809067	47809067	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:47809067G>A	ENST00000285106.6	-	15	2581	c.1867C>T	c.(1867-1869)Cgc>Tgc	p.R623C	CXXC1_ENST00000589940.1_Silent_p.C610C|CXXC1_ENST00000412036.2_Missense_Mutation_p.R627C	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	623					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						ATGGCTGTGCGCACATTGCGC	0.647000													11	93					0	0	1	0	0
MARK3	4140	broad.mit.edu	37	14	103969274	103969274	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:103969274C>T	ENST00000429436.2	+	18	2482	c.1972C>T	c.(1972-1974)Cta>Tta	p.L658L	MARK3_ENST00000553942.1_Silent_p.L649L|MARK3_ENST00000303622.9_Silent_p.L634L|MARK3_ENST00000416682.2_Silent_p.L657L|MARK3_ENST00000440884.3_Silent_p.L564L|MARK3_ENST00000216288.7_Silent_p.L618L|MARK3_ENST00000335102.5_Silent_p.L681L|MARK3_ENST00000561071.1_3'UTR	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	658							ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			GCCTCGATCCCTACGCTTCAC	0.443000													12	53					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8384696	8384696	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:8384696G>A	ENST00000360416.3	-	38	5346	c.5208C>T	c.(5206-5208)caC>caT	p.H1736H	MYH10_ENST00000379980.4_Silent_p.H1721H|MYH10_ENST00000269243.4_Silent_p.H1705H|MYH10_ENST00000396239.1_Silent_p.H1726H	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1705					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CCTGCTCGGCGTGTCGGCGGG	0.602000													9	51					0	0	1	0	0
ADAMTSL5	339366	broad.mit.edu	37	19	1506029	1506029	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:1506029C>T	ENST00000330475.4	-	12	1844	c.1401G>A	c.(1399-1401)cgG>cgA	p.R467R	ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000395467.2_3'UTR|ADAMTSL5_ENST00000413997.2_Silent_p.R477R	NM_213604.2	NP_998769.2	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	467	NTR.					proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGACAGCGCCGGGCAGTCA	0.672000													4	13					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156957869	156957869	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:156957869G>C	ENST00000257527.4	-	5	431	c.353C>G	c.(352-354)aCg>aGg	p.T118R	ADAM19_ENST00000394020.1_Missense_Mutation_p.T120R|ADAM19_ENST00000517905.1_Missense_Mutation_p.T118R|ADAM19_ENST00000430702.2_5'UTR	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	118					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCCCTCACCGTGCCGTGGTA	0.542000													6	55					0	0	1	0	0
CRMP1	1400	broad.mit.edu	37	4	5857933	5857933	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:5857933C>T	ENST00000324989.7	-	4	845	c.757G>A	c.(757-759)Gtg>Atg	p.V253M	CRMP1_ENST00000512574.1_Missense_Mutation_p.V137M|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000397890.2_Missense_Mutation_p.V139M	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	139					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GTGATGTCCACGTGGAGGGAG	0.552000													9	58					0	0	1	0	0
ZNF525	170958	broad.mit.edu	37	19	53884868	53884868	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:53884868C>T	ENST00000467003.1	+	4	1129	c.928C>T	c.(928-930)Cgt>Tgt	p.R310C	ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.R346C|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000355326.3_Missense_Mutation_p.R64C					zinc finger protein 525											endometrium(3)|kidney(3)|lung(3)	9						TGCATGCCATCGTAGCATTCA	0.393000													21	60					0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30802165	30802165	+	Splice_Site	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:30802165A>G	ENST00000256079.4	-	20	2512	c.2172_splice	c.e20-1	p.V725_splice	IPO8_ENST00000544829.1_Splice_Site_p.V520_splice	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	725					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCCACATAGTACCTGCAGTAA	0.418000													13	77					0	0	1	0	0
BPNT1	10380	broad.mit.edu	37	1	220236296	220236296	+	Splice_Site	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:220236296C>A	ENST00000469520.2	-	8	924	c.474_splice	c.e8-1	p.A159_splice	BPNT1_ENST00000544404.1_Splice_Site_p.A104_splice|BPNT1_ENST00000354807.3_Splice_Site_p.A174_splice|BPNT1_ENST00000482136.1_5'UTR|BPNT1_ENST00000322067.7_Splice_Site_p.A159_splice|BPNT1_ENST00000414869.2_Splice_Site_p.A123_splice			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	159					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		TCTGGTCCTGCCTGTGTAAAC	0.413000													12	60					1.08611e-07	1.21227e-07	1	1	0
ATP5S	27109	broad.mit.edu	37	14	50789458	50789458	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:50789458C>G	ENST00000426751.2	+	3	1019	c.382C>G	c.(382-384)Cta>Gta	p.L128V	ATP5S_ENST00000554438.1_Intron|ATP5S_ENST00000358473.1_Intron|ATP5S_ENST00000245448.6_Intron|ATP5S_ENST00000311459.7_Intron	NM_015684.3	NP_056499.2	Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)	0					ATP biosynthetic process	mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		TATCGTTTTGCTAATAGAAAA	0.413000													13	42					0	0	1	0	0
DDO	8528	broad.mit.edu	37	6	110714368	110714368	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:110714368C>T	ENST00000368924.3	-	5	735	c.720G>A	c.(718-720)gaG>gaA	p.E240E	DDO_ENST00000368925.1_Silent_p.E212E|DDO_ENST00000368923.3_Silent_p.E181E	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	212					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GGATAAAATGCTCCACCCAGG	0.507000													26	221					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284619	152284619	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:152284619C>T	ENST00000368799.1	-	3	2778	c.2743G>A	c.(2743-2745)Gaa>Aaa	p.E915K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	915	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAAGCTTCATGGTGACGT	0.567000									Ichthyosis				100	747					0	0	1	0	0
CDK16	5127	broad.mit.edu	37	X	47083885	47083885	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:47083885C>T	ENST00000457458.2	+	3	742	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	CDK16_ENST00000518022.1_Missense_Mutation_p.R102C|CDK16_ENST00000357227.4_Missense_Mutation_p.R102C|CDK16_ENST00000276052.6_Missense_Mutation_p.R176C	NM_033018.3	NP_148978.2	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	102							ATP binding|cyclin-dependent protein kinase activity|protein binding	p.R102C(2)		breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						AGTGCGTATGCGCAACCATCC	0.587000													9	34					0	0	1	0	0
TRA2A	29896	broad.mit.edu	37	7	23552536	23552536	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:23552536C>T	ENST00000297071.4	-	4	718	c.502G>A	c.(502-504)Gag>Aag	p.E168K	TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000392502.4_Missense_Mutation_p.E67K|TRA2A_ENST00000538367.1_Missense_Mutation_p.E67K	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	168	RRM.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TCTATTCTCTCAAAATACACA	0.348000													8	65					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23858877	23858877	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:23858877G>T	ENST00000405093.3	-	27	3854	c.3784C>A	c.(3784-3786)Cgc>Agc	p.R1262S	MYH6_ENST00000356287.3_Missense_Mutation_p.R1262S	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1262					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGCTTCACGCGGTACTCATTG	0.592000													17	54					4.7546e-09	5.42682e-09	1	1	0
SERGEF	26297	broad.mit.edu	37	11	17809919	17809919	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:17809919A>G	ENST00000265965.5	-	11	1241	c.1090T>C	c.(1090-1092)Tgc>Cgc	p.C364R	SERGEF_ENST00000528200.1_3'UTR	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	364					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						CCATCTCCGCACATGCCATGC	0.557000													9	42					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157660238	157660238	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:157660238G>A	ENST00000368184.3	-	9	1788	c.1497C>T	c.(1495-1497)tcC>tcT	p.S499S	FCRL3_ENST00000368186.5_Silent_p.S499S|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	499	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AGCCTCTCAGGGACTCACAGT	0.612000													9	129					0	0	1	0	0
LGMN	5641	broad.mit.edu	37	14	93171050	93171050	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:93171050G>A	ENST00000393218.2	-	14	1531	c.1194C>T	c.(1192-1194)taC>taT	p.Y398Y	LGMN_ENST00000555699.1_Intron|LGMN_ENST00000334869.4_Silent_p.Y398Y|LGMN_ENST00000557434.1_Silent_p.Y341Y	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	398					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		ACGCATACTCGTACTGGGAGA	0.478000													32	146					0	0	1	0	0
PGM2	55276	broad.mit.edu	37	4	37848864	37848864	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:37848864A>G	ENST00000381967.4	+	10	1330	c.1230A>G	c.(1228-1230)aaA>aaG	p.K410K	PGM2_ENST00000544359.1_Silent_p.K271K|PGM2_ENST00000537241.1_Silent_p.K250K	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	410					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						ACAGAGCCAAACAGCTAATAG	0.383000													5	94					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103573753	103573753	+	Translation_Start_Site	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:103573753C>T	ENST00000358392.2	-	0	299				COL11A1_ENST00000353414.4_De_novo_Start_OutOfFrame|COL11A1_ENST00000512756.1_De_novo_Start_OutOfFrame|COL11A1_ENST00000370096.3_De_novo_Start_OutOfFrame	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCCGCACTCACAACTGTGAAC	0.547000													3	30					0	0	1	0	0
SCML1	6322	broad.mit.edu	37	X	17768240	17768240	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:17768240G>A	ENST00000380043.3	+	5	777	c.449G>A	c.(448-450)cGc>cAc	p.R150H	SCML1_ENST00000398080.1_Missense_Mutation_p.R56H|SCML1_ENST00000380045.3_Missense_Mutation_p.R56H|SCML1_ENST00000380041.3_Missense_Mutation_p.R177H	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	177					anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					ATCCTCAGCCGCACTCCGAGT	0.522000													39	58					0	0	1	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140769495	140769495	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:140769495C>T	ENST00000519479.1	+	1	2044	c.2044C>T	c.(2044-2046)Ctc>Ttc	p.L682F	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCTCTGACCTCCAGGCTGA	0.617000													11	179					0	0	1	0	0
LMAN2	10960	broad.mit.edu	37	5	176778483	176778483	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:176778483G>A	ENST00000303127.7	-	1	370	c.166C>T	c.(166-168)Cgg>Tgg	p.R56W	LMAN2_ENST00000506310.1_5'UTR|LMAN2_ENST00000515209.1_Missense_Mutation_p.R56W	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	56	L-type lectin-like.				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAATGCTCCCGCTTGAGATGT	0.577000													11	57					0	0	1	0	0
CCER1	196477	broad.mit.edu	37	12	91347840	91347840	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:91347840G>T	ENST00000358859.2	-	1	1113	c.680C>A	c.(679-681)cCa>cAa	p.P227Q	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		GGATCTGGCTGGGGAGGCCTC	0.627000													46	207					2.77807e-22	3.37569e-22	1	1	0
PALB2	79728	broad.mit.edu	37	16	23641670	23641670	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:23641670T>A	ENST00000261584.4	-	5	1957	c.1805A>T	c.(1804-1806)cAa>cTa	p.Q602L		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	602					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		AGACAGTAGTTGCTTTAAACT	0.398000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					12	70					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68189578	68189578	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:68189578G>C	ENST00000262215.3	-	8	1531	c.1142C>G	c.(1141-1143)tCt>tGt	p.S381C		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	381					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATATGCAACAGAAATTGGTGT	0.408000													8	66					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100571	168100571	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:168100571G>T	ENST00000409195.1	+	9	2758	c.2669G>T	c.(2668-2670)aGt>aTt	p.S890I	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S890I|XIRP2_ENST00000409273.1_Missense_Mutation_p.S668I|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	715					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTAAAAGACAGTCCTGATATA	0.383000													19	83					2.94398e-08	3.32585e-08	1	1	0
INVS	27130	broad.mit.edu	37	9	103054823	103054823	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:103054823C>T	ENST00000262457.2	+	14	2469	c.2284C>T	c.(2284-2286)Cgg>Tgg	p.R762W	INVS_ENST00000541287.1_Missense_Mutation_p.R666W|INVS_ENST00000262456.2_Intron	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	762					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				GGACTCCAGGCGGGCAGCTGC	0.617000													6	44					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136310876	136310876	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:136310876G>A	ENST00000371929.3	+	21	3111	c.2667G>A	c.(2665-2667)acG>acA	p.T889T	ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Silent_p.T858T|ADAMTS13_ENST00000355699.2_Silent_p.T889T|ADAMTS13_ENST00000485925.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	889					cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCATCAGGACGGGGGCTCAAG	0.677000													11	37					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21042406	21042406	+	Missense_Mutation	SNP	C	C	A	rs151082676		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:21042406C>A	ENST00000261383.3	-	37	5399	c.5400G>T	c.(5398-5400)tgG>tgT	p.W1800C	DNAH3_ENST00000415178.1_Missense_Mutation_p.W1800C	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1800	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.W1800*(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TATTTTCAATCCAAATAGCAT	0.403000													15	78					1.49906e-05	1.621e-05	1	1	0
ZNF479	90827	broad.mit.edu	37	7	57188674	57188674	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:57188674A>T	ENST00000331162.4	-	5	718	c.448T>A	c.(448-450)Tca>Aca	p.S150T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGGGTAGTTGACAAACATTGG	0.299000													15	69					0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153742311	153742311	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:153742311A>G	ENST00000456435.1	+	23	2948	c.1762A>G	c.(1762-1764)Aac>Gac	p.N588D	INTS3_ENST00000512605.1_Missense_Mutation_p.N588D|INTS3_ENST00000318967.2_Missense_Mutation_p.N794D|INTS3_ENST00000435409.2_Missense_Mutation_p.N794D|INTS3_ENST00000476843.1_3'UTR			Q68E01	INT3_HUMAN	integrator complex subunit 3	795					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTCAGTTCTCAACATACTCAG	0.493000													10	56					0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6018321	6018321	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:6018321C>T	ENST00000265849.7	-	13	2286	c.2181G>A	c.(2179-2181)caG>caA	p.Q727Q	PMS2_ENST00000441476.2_Silent_p.Q621Q|PMS2_ENST00000406569.3_Intron|PMS2_ENST00000382321.4_Silent_p.Q326Q	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	727					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AGTTGAGAGTCTGAGGTCTGA	0.308000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				7	40					0	0	1	0	0
KAT7	11143	broad.mit.edu	37	17	47875697	47875697	+	Silent	SNP	T	T	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:47875697T>G	ENST00000259021.4	+	4	637	c.357T>G	c.(355-357)gcT>gcG	p.A119A	KAT7_ENST00000510819.1_Intron|KAT7_ENST00000454930.2_Intron|KAT7_ENST00000503935.2_5'UTR|KAT7_ENST00000435742.2_5'UTR|KAT7_ENST00000509773.1_Intron|KAT7_ENST00000424009.2_Silent_p.A119A	NM_007067.4	NP_008998.1	O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	119					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										AAAATACAGCTGATCATGATG	0.418000													5	63					0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71196915	71196915	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:71196915C>T	ENST00000260382.5	+	5	581	c.321C>T	c.(319-321)atC>atT	p.I107I	LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000544974.2_Silent_p.I97I|LRRC49_ENST00000443425.2_Silent_p.I63I|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Silent_p.I112I	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	107						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TATGTCCTATCATCAATGGGG	0.308000													15	71					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79833082	79833082	+	Silent	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:79833082C>A	ENST00000335016.5	+	16	3547	c.3381C>A	c.(3379-3381)ccC>ccA	p.P1127P	PAQR3_ENST00000512733.1_3'UTR|PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	1127						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						GTGCCGTGCCCTTTACAGAAC	0.463000													19	131					2.94398e-08	3.32585e-08	1	1	0
PNPT1	87178	broad.mit.edu	37	2	55895050	55895050	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:55895050G>C	ENST00000447944.2	-	12	1106	c.1020C>G	c.(1018-1020)ttC>ttG	p.F340L		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	340					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAACAACATTGAAGGATTCTA	0.294000													6	31					0	0	1	0	0
STAT6	6778	broad.mit.edu	37	12	57501400	57501400	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:57501400G>A	ENST00000300134.3	-	3	568	c.243C>T	c.(241-243)atC>atT	p.I81I	STAT6_ENST00000454075.3_Silent_p.I81I|STAT6_ENST00000543873.2_Silent_p.I81I|STAT6_ENST00000538913.2_Intron|STAT6_ENST00000556155.1_Silent_p.I81I|STAT6_ENST00000537215.2_5'UTR	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	81					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CAAGGGTGCTGATGTGTTGCA	0.592000													13	71					0	0	1	0	0
SLC25A21	89874	broad.mit.edu	37	14	37198738	37198738	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:37198738C>A	ENST00000331299.5	-	5	819	c.304G>T	c.(304-306)Gga>Tga	p.G102*	SLC25A21_ENST00000555449.1_Nonsense_Mutation_p.G102*	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	102					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		GACACATATCCCAGCAATTTC	0.318000													4	17					1.23904e-05	1.34065e-05	1	1	0
TECTA	7007	broad.mit.edu	37	11	120996478	120996478	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:120996478G>A	ENST00000392793.1	+	8	1942	c.1671G>A	c.(1669-1671)gtG>gtA	p.V557V	TECTA_ENST00000264037.2_Silent_p.V557V			O75443	TECTA_HUMAN	tectorin alpha	557					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TGTGCAGTGTGAGGGACAATG	0.587000													11	114					0	0	1	0	0
FCN1	2219	broad.mit.edu	37	9	137803099	137803099	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:137803099G>A	ENST00000371806.3	-	8	704	c.613C>T	c.(613-615)Cgt>Tgt	p.R205C		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	205	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	p.R205C(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		AGGTCTACACGGAGCTCGCTG	0.483000													30	205					0	0	1	0	0
LZTS1	11178	broad.mit.edu	37	8	20110802	20110802	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:20110802T>C	ENST00000381569.1	-	3	997	c.640A>G	c.(640-642)Acc>Gcc	p.T214A	LZTS1_ENST00000265801.6_Missense_Mutation_p.T214A|LZTS1_ENST00000522290.1_Missense_Mutation_p.T214A			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	214					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		ATGCCCTGGGTGATGTTGTGG	0.622000													14	79					0	0	1	0	0
IKBKE	9641	broad.mit.edu	37	1	206666659	206666659	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:206666659C>A	ENST00000367120.3	+	20	2366	c.1993C>A	c.(1993-1995)Ccg>Acg	p.P665T	C1orf147_ENST00000367119.1_Intron|IKBKE_ENST00000537984.1_Missense_Mutation_p.P580T|IKBKE_ENST00000462698.1_3'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	665					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					TCAGGCCTCGCCGCCTCCCAT	0.572000													18	154					5.3912e-06	5.86202e-06	1	1	0
BZW2	28969	broad.mit.edu	37	7	16734482	16734482	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:16734482G>T	ENST00000433922.2	+	8	853	c.675G>T	c.(673-675)caG>caT	p.Q225H	BZW2_ENST00000258761.3_Missense_Mutation_p.Q225H|BZW2_ENST00000407633.1_Missense_Mutation_p.Q31H|BZW2_ENST00000452975.2_3'UTR|BZW2_ENST00000405202.1_Missense_Mutation_p.Q149H	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	225					cell differentiation|nervous system development|RNA metabolic process		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		TTAACAGACAGAGTGTGGATC	0.433000													14	76					4.36969e-10	5.04283e-10	1	1	0
GPR139	124274	broad.mit.edu	37	16	20043689	20043689	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:20043689G>A	ENST00000570682.1	-	2	730	c.430C>T	c.(430-432)Cgc>Tgc	p.R144C		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	144						integral to membrane|plasma membrane		p.R144S(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TTCCGGGTGCGGGCTGGGTAT	0.507000													26	115					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139404256	139404256	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:139404256G>A	ENST00000277541.6	-	18	2973	c.2898C>T	c.(2896-2898)agC>agT	p.S966S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	966	EGF-like 25; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCACGTGTAGCTGTCCACGC	0.647000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			30	91					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23239993	23239993	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:23239993A>G	ENST00000400191.3	+	16	2909	c.2891A>G	c.(2890-2892)cAg>cGg	p.Q964R	EPHB2_ENST00000374632.3_Missense_Mutation_p.Q965R|EPHB2_ENST00000374627.1_3'UTR|EPHB2_ENST00000374630.3_Missense_Mutation_p.Q964R	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	964	SAM.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GCTGGCCACCAGAAAAAAATC	0.542000													4	46					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	102051459	102051459	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr13:102051459T>A	ENST00000251127.6	-	2	100	c.19A>T	c.(19-21)Agt>Tgt	p.S7C	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Missense_Mutation_p.S7C|NALCN_ENST00000376196.3_Missense_Mutation_p.S7C	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	7						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACCCTGGAACTCTGCTTCCTT	0.453000													15	31					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23532192	23532192	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:23532192C>A	ENST00000262710.1	-	14	3330	c.3003G>T	c.(3001-3003)caG>caT	p.Q1001H	ACIN1_ENST00000357481.2_Missense_Mutation_p.Q243H|ACIN1_ENST00000338631.6_Missense_Mutation_p.Q274H|ACIN1_ENST00000397341.3_Missense_Mutation_p.Q243H|ACIN1_ENST00000605057.1_Missense_Mutation_p.Q943H|ACIN1_ENST00000557515.1_Missense_Mutation_p.Q242H|ACIN1_ENST00000555053.1_Missense_Mutation_p.Q988H|ACIN1_ENST00000457657.1_Missense_Mutation_p.Q961H	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1001					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGGAGGGCACCTGGGCAGTTC	0.478000													29	124					9.39395e-14	1.11541e-13	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62300790	62300790	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:62300790C>G	ENST00000378024.4	-	5	1373	c.1099G>C	c.(1099-1101)Gag>Cag	p.E367Q	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	367					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)				AGCTTCCCCTCAAGGCCCTCA	0.597000													8	65					0	0	1	0	0
MED7	9443	broad.mit.edu	37	5	156566136	156566136	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:156566136T>C	ENST00000286317.5	-	2	688	c.307A>G	c.(307-309)Ata>Gta	p.I103V	MED7_ENST00000420343.1_Missense_Mutation_p.I103V	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	103					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTCGTTTTATACTCCCAGGG	0.358000													15	59					0	0	1	0	0
NUGGC	389643	broad.mit.edu	37	8	27927171	27927171	+	Splice_Site	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:27927171T>C	ENST00000413272.2	-	4	291		c.e4-2		NUGGC_ENST00000341513.6_Splice_Site	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated																		ATTTTTCATCTGGAATTAACA	0.438000													9	44					0	0	1	0	0
RGS2	5997	broad.mit.edu	37	1	192778313	192778313	+	Splice_Site	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:192778313T>C	ENST00000235382.5	+	1	141		c.e1+2		RGS2_ENST00000483295.1_Splice_Site	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2, 24kDa						cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity			large_intestine(3)|lung(1)|urinary_tract(1)	5						ACGGACCCTGTGAGTATGGCT	0.562000													10	93					0	0	1	0	0
SCAMP3	10067	broad.mit.edu	37	1	155231903	155231903	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:155231903G>A	ENST00000355379.3	-	1	318	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S	SCAMP3_ENST00000302631.3_Missense_Mutation_p.P14S	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	14					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGCTCGCTGGGCTCGGCGAAC	0.642000													10	70					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112676903	112676903	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:112676903G>A	ENST00000550722.1	-	34	5200	c.4805C>T	c.(4804-4806)gCc>gTc	p.A1602V	HECTD4_ENST00000430131.2_Missense_Mutation_p.A1326V|HECTD4_ENST00000377560.5_Missense_Mutation_p.A1576V	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CACCTGGAAGGCAGCCCAGGC	0.522000													10	69					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135428208	135428208	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:135428208T>C	ENST00000394143.1	+	6	2634	c.2343T>C	c.(2341-2343)acT>acC	p.T781T	GPR112_ENST00000287534.4_Silent_p.T718T|GPR112_ENST00000370652.1_Silent_p.T781T|GPR112_ENST00000412101.1_Silent_p.T576T|GPR112_ENST00000394141.1_Silent_p.T576T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	781					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAAGGGAGACTGTTGTTCCAT	0.348000													23	25					0	0	1	0	0
CA9	768	broad.mit.edu	37	9	35674215	35674215	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:35674215G>T	ENST00000378357.4	+	1	363	c.259G>T	c.(259-261)Gag>Tag	p.E87*		NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	87	Proteoglycan-like (PG).				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACCTGGAGAGGAGGATCTACC	0.542000													8	38					1.06961e-07	1.19537e-07	1	1	0
OR8H1	219469	broad.mit.edu	37	11	56058392	56058392	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:56058392G>C	ENST00000313022.2	-	1	174	c.147C>G	c.(145-147)atC>atG	p.I49M		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GGTCCAGGCGGATTATCAATA	0.418000													26	240					0	0	1	0	0
ENTPD1	953	broad.mit.edu	37	10	97607265	97607265	+	Silent	SNP	C	C	T	rs149509898	by1000genomes	TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:97607265C>T	ENST00000371203.5	+	6	1049	c.462C>T	c.(460-462)aaC>aaT	p.N154N	ENTPD1_ENST00000543964.1_Silent_p.N184N|ENTPD1_ENST00000453258.2_Silent_p.N299N|ENTPD1_ENST00000371205.4_Silent_p.N292N|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000539125.1_Silent_p.N154N|ENTPD1_ENST00000371207.3_Silent_p.N304N|RP11-429G19.3_ENST00000433113.1_RNA	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	292					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		AGGTAGTGAACGTAAGTGACC	0.418000													31	76					0	0	1	0	0
SERPINB6	5269	broad.mit.edu	37	6	2949161	2949161	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:2949161G>A	ENST00000380520.1	-	5	2710	c.716C>T	c.(715-717)aCt>aTt	p.T239I	SERPINB6_ENST00000380539.1_Missense_Mutation_p.T239I|SERPINB6_ENST00000380546.3_Missense_Mutation_p.T239I|SERPINB6_ENST00000380529.1_Missense_Mutation_p.T239I|SERPINB6_ENST00000335686.5_Missense_Mutation_p.T239I|SERPINB6_ENST00000380524.1_Missense_Mutation_p.T239I			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	239					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	TCTCAAGTCAGTGGTCTCGTC	0.493000													5	92					0	0	1	0	0
HSPA2	3306	broad.mit.edu	37	14	65008732	65008732	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:65008732G>A	ENST00000247207.6	+	1	1547	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	HSPA2_ENST00000394709.1_Missense_Mutation_p.E389K	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	389					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CGACAAATCAGAGAATGTGCA	0.602000													6	89					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149491942	149491942	+	RNA	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:149491942A>G	ENST00000378016.2	+	0	6143							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCAGTCCCCAGATCAGATTC	0.617000													4	49					0	0	1	0	0
BIRC7	79444	broad.mit.edu	37	20	61870752	61870752	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:61870752T>C	ENST00000217169.3	+	6	906	c.692T>C	c.(691-693)cTt>cCt	p.L231P	BIRC7_ENST00000342412.6_Intron|BIRC7_ENST00000395306.1_Intron	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	231					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					TGGTGGGTTCTTGAGCCCCCA	0.677000													15	49					0	0	1	0	0
FAM78A	286336	broad.mit.edu	37	9	134136225	134136225	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:134136225G>A	ENST00000372271.3	-	2	1203	c.836C>T	c.(835-837)cCg>cTg	p.P279L	FAM78A_ENST00000247295.4_5'UTR|FAM78A_ENST00000372269.3_Missense_Mutation_p.P276L	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	279										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		GTGCTTGGGCGGGATCACCAC	0.577000													27	96					0	0	1	0	0
TRIB2	28951	broad.mit.edu	37	2	12864893	12864893	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:12864893C>T	ENST00000405331.3	+	3	772	c.702C>T	c.(700-702)tgC>tgT	p.C234C	TRIB2_ENST00000155926.4_Intron|TRIB2_ENST00000381465.2_Intron			Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	0	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTCTGTATGCTGTATTGGCT	0.398000													41	189					0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201351788	201351788	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:201351788T>C	ENST00000391967.2	-	8	1767	c.1466A>G	c.(1465-1467)gAc>gGc	p.D489G	LAD1_ENST00000367313.3_Missense_Mutation_p.D503G	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	489						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TACCTGGGGGTCCTGATCTCC	0.542000													4	7					0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10644631	10644631	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:10644631T>C	ENST00000254958.5	-	3	934	c.419A>G	c.(418-420)gAt>gGt	p.D140G		NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	140					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ATTACTGGAATCCCACGCCTC	0.463000									Alagille Syndrome				6	86					0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60799894	60799894	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:60799894A>G	ENST00000544856.2	-	9	2544	c.2166T>C	c.(2164-2166)ggT>ggC	p.G722G	MARCH10_ENST00000456609.2_Silent_p.G723G|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000583600.1_Silent_p.G761G|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000311269.5_Silent_p.G723G|RP11-156L14.1_ENST00000584597.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	723							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TGTTAAAGTCACCCAGGTCAA	0.453000													3	26					0	0	1	0	0
RNASEH2A	10535	broad.mit.edu	37	19	12918074	12918074	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:12918074A>G	ENST00000221486.4	+	3	348	c.254A>G	c.(253-255)gAc>gGc	p.D85G		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	85					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						AAAATGGAGGACACGGACTTT	0.587000													12	134					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186313198	186313198	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:186313198G>A	ENST00000367478.3	-	26	3738	c.3442C>T	c.(3442-3444)Cgc>Tgc	p.R1148C		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1148					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCTTCACAGCGACATACACAT	0.408000			T	NTRK1	papillary thyroid								5	43					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9009912	9009912	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:9009912C>T	ENST00000299698.7	+	24	3181	c.3001C>T	c.(3001-3003)Cgg>Tgg	p.R1001W	A2ML1_ENST00000539547.1_Missense_Mutation_p.R510W	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	845						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GATCAGGTCTCGGGCAGTGGG	0.502000													28	131					0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50666682	50666682	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:50666682C>T	ENST00000371824.1	+	7	1190	c.933C>T	c.(931-933)aaC>aaT	p.N311N	ELAVL4_ENST00000371819.1_Silent_p.N316N|ELAVL4_ENST00000371821.1_Silent_p.N330N|ELAVL4_ENST00000448907.2_Silent_p.N314N|ELAVL4_ENST00000371823.4_Silent_p.N325N|ELAVL4_ENST00000357083.4_Silent_p.N328N|ELAVL4_ENST00000371827.1_Silent_p.N311N			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	325	RRM 3.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CAGTGAACAACGTAAAGGTGA	0.532000													12	105					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801566	185801566	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:185801566A>G	ENST00000302277.6	+	4	2037	c.1443A>G	c.(1441-1443)aaA>aaG	p.K481K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	481						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAGACTTAAAAGATCTTTGTT	0.343000													28	129					0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119736237	119736237	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:119736237C>T	ENST00000379735.5	-	6	1021	c.750G>A	c.(748-750)atG>atA	p.M250I	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Missense_Mutation_p.M249I	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	249	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GCGGACCAGCCATCTGTGCAG	0.522000													10	110					0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109395283	109395283	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:109395283C>A	ENST00000370001.3	-	2	272	c.4G>T	c.(4-6)Gat>Tat	p.D2Y	AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369994.1_Missense_Mutation_p.D2Y|AKNAD1_ENST00000369995.3_Missense_Mutation_p.D2Y	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	2										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCAGCCTCATCCATGTGTGTG	0.473000													13	59					9.31168e-06	1.00938e-05	1	1	0
PRKAG1	5571	broad.mit.edu	37	12	49396733	49396733	+	Silent	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:49396733C>A	ENST00000548065.1	-	12	1401	c.945G>T	c.(943-945)ctG>ctT	p.L315L	PRKAG1_ENST00000552212.1_Silent_p.L283L|PRKAG1_ENST00000316299.5_Silent_p.L324L|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Silent_p.L264L|PRKAG1_ENST00000395170.3_Silent_p.L231L|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	315	CBS 4.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						GGATGTCAGACAGTGATACAA	0.542000													15	84					6.72482e-11	7.8015e-11	1	1	0
AEBP1	165	broad.mit.edu	37	7	44149663	44149663	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:44149663C>T	ENST00000223357.3	+	10	1505	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	AEBP1_ENST00000454218.1_3'UTR	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	400	F5/8 type C.|Required for DNA-binding and interaction with NFKBIA (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						ACAACCAGATCCGAGCCTCCT	0.627000													11	30					0	0	1	0	0
PRSS36	146547	broad.mit.edu	37	16	31154670	31154670	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:31154670A>T	ENST00000268281.4	-	8	1151	c.1093T>A	c.(1093-1095)Ttt>Att	p.F365I	PRSS36_ENST00000418068.2_Missense_Mutation_p.F365I|PRSS36_ENST00000569305.1_Missense_Mutation_p.F365I	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	365	Peptidase S1 2.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CACTCCAGAAAGCAGCTGGCA	0.627000													19	85					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106523599	106523599	+	Silent	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:106523599T>A	ENST00000359195.3	+	8	3061	c.2751T>A	c.(2749-2751)acT>acA	p.T917T	PIK3CG_ENST00000440650.2_Silent_p.T917T|PIK3CG_ENST00000496166.1_Silent_p.T917T	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	917	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AATCCCCTACTGAAGAAAAGG	0.433000													25	111					0	0	1	0	0
OR10A4	283297	broad.mit.edu	37	11	6898606	6898606	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:6898606C>T	ENST00000379829.2	+	1	751	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCCACCTGTTCCGCCCACCTC	0.522000													9	106					0	0	1	0	0
ZNF227	7770	broad.mit.edu	37	19	44738938	44738938	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:44738938A>G	ENST00000313040.7	+	6	560	c.355A>G	c.(355-357)Atc>Gtc	p.I119V	ZNF227_ENST00000589005.1_Missense_Mutation_p.I68V|ZNF227_ENST00000586228.1_3'UTR|ZNF227_ENST00000589707.1_3'UTR|ZNF227_ENST00000391961.2_Missense_Mutation_p.I68V	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CTGCTGGCAAATCTGGAAACA	0.368000													24	79					0	0	1	0	0
NCKAP1	10787	broad.mit.edu	37	2	183860435	183860435	+	Silent	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:183860435G>T	ENST00000360982.2	-	8	1511	c.753C>A	c.(751-753)tcC>tcA	p.S251S	NCKAP1_ENST00000361354.3_Silent_p.S245S	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	245					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	p.S251S(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATACAGTGTCGGACTGTGCTG	0.368000													8	68					1.12685e-05	1.22001e-05	1	1	0
POTEC	388468	broad.mit.edu	37	18	14542999	14542999	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:14542999G>A	ENST00000358970.5	-	1	146	c.147C>T	c.(145-147)caC>caT	p.H49H	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	49										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AGGAGTCGTCGTGGTCTCCAG	0.587000													12	334					0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9965293	9965293	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:9965293T>C	ENST00000264833.4	-	6	1119	c.934A>G	c.(934-936)Acc>Gcc	p.T312A	OLFM2_ENST00000590841.1_Missense_Mutation_p.T234A	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	312	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TAGGGGAAGGTGTTGTTGTAA	0.592000													10	63					0	0	1	0	0
ACTG1	71	broad.mit.edu	37	17	79479369	79479369	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:79479369C>A	ENST00000575842.1	-	1	438	c.12G>T	c.(10-12)gaG>gaT	p.E4D	ACTG1_ENST00000331925.2_Missense_Mutation_p.E4D|ACTG1_ENST00000573283.1_Missense_Mutation_p.E4D|ACTG1_ENST00000575087.1_Missense_Mutation_p.E4D			P63261	ACTG_HUMAN	actin, gamma 1	4					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			GCGCGGCGATCTCTTCTTCCA	0.637000													34	95					2.20474e-14	2.62844e-14	1	1	0
BCAS3	54828	broad.mit.edu	37	17	59115354	59115354	+	Missense_Mutation	SNP	A	A	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:59115354A>C	ENST00000589222.1	+	18	1935	c.1867A>C	c.(1867-1869)Att>Ctt	p.I623L	BCAS3_ENST00000408905.3_Missense_Mutation_p.I623L|BCAS3_ENST00000588874.1_Missense_Mutation_p.I394L|BCAS3_ENST00000390652.5_Missense_Mutation_p.I638L|BCAS3_ENST00000585744.1_Missense_Mutation_p.I409L|BCAS3_ENST00000588462.1_Missense_Mutation_p.I638L|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000407086.3_Missense_Mutation_p.I623L			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	638						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGCACCCAAGATTAGTGACGA	0.468000													22	125					0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88854818	88854818	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:88854818T>A	ENST00000537554.1	-	2	3738	c.176A>T	c.(175-177)cAa>cTa	p.Q59L	CNR1_ENST00000369501.2_Missense_Mutation_p.Q59L|CNR1_ENST00000535130.1_Missense_Mutation_p.Q59L|CNR1_ENST00000549716.1_Intron|CNR1_ENST00000468898.1_Missense_Mutation_p.Q26L|CNR1_ENST00000549890.1_Missense_Mutation_p.Q59L|CNR1_ENST00000369499.2_Missense_Mutation_p.Q59L|CNR1_ENST00000362094.5_Intron|CNR1_ENST00000428600.2_Missense_Mutation_p.Q59L	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	59					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CATCTTCTCTTGGAAGGGACT	0.453000													16	62					0	0	1	0	0
GPR174	84636	broad.mit.edu	37	X	78426765	78426765	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:78426765G>A	ENST00000276077.1	+	1	297	c.261G>A	c.(259-261)ggG>ggA	p.G87G		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	87						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						GGCCATTTGGGCCTGGTCTCT	0.418000										HNSCC(63;0.18)			13	33					0	0	1	0	0
XPO5	57510	broad.mit.edu	37	6	43499297	43499297	+	Silent	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:43499297G>C	ENST00000265351.7	-	22	2670	c.2460C>G	c.(2458-2460)ctC>ctG	p.L820L		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	820					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TGAGTTCCAAGAGAGGTTGAG	0.463000													8	82					0	0	1	0	0
ABAT	18	broad.mit.edu	37	16	8866748	8866748	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:8866748C>T	ENST00000396600.2	+	12	1866	c.928C>T	c.(928-930)Cgg>Tgg	p.R310W	ABAT_ENST00000567812.1_Missense_Mutation_p.R325W|ABAT_ENST00000425191.2_Missense_Mutation_p.R310W|ABAT_ENST00000268251.8_Missense_Mutation_p.R310W|ABAT_ENST00000569156.1_Missense_Mutation_p.R310W	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	310					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	TGACTTCTTTCGGAAGCTGAG	0.557000													6	78					0	0	1	0	0
E2F2	1870	broad.mit.edu	37	1	23848384	23848384	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:23848384C>A	ENST00000361729.2	-	3	949	c.523G>T	c.(523-525)Gtg>Ttg	p.V175L		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	175	Leucine-zipper.				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.V175M(1)		endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CCTTCCAGCACGTTGGTGATG	0.587000													17	66					1.99824e-07	2.22474e-07	1	1	0
SGOL2	151246	broad.mit.edu	37	2	201436981	201436981	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:201436981G>T	ENST00000357799.4	+	7	2010	c.1912G>T	c.(1912-1914)Gtg>Ttg	p.V638L		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	638					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TAAAGATGTGGTGCATGGCCT	0.328000													28	132					5.61819e-17	6.77093e-17	1	1	0
EEF2	1938	broad.mit.edu	37	19	3982312	3982312	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:3982312C>A	ENST00000309311.6	-	5	811	c.723G>T	c.(721-723)gaG>gaT	p.E241D		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	241						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAACTGGCCCTCCCCCTTGG	0.627000													15	57					2.32078e-09	2.6592e-09	1	1	0
MAP1A	4130	broad.mit.edu	37	15	43814119	43814119	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:43814119C>T	ENST00000382031.1	+	5	1193	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	MAP1A_ENST00000399453.1_Missense_Mutation_p.R150W|MAP1A_ENST00000300231.5_Missense_Mutation_p.R150W			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	150	Lys-rich (basic).					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGATGCCTCCCGGAAAGCCAA	0.542000													8	64					0	0	1	0	0
NT5DC2	64943	broad.mit.edu	37	3	52558586	52558586	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:52558586C>T	ENST00000307076.4	-	14	1863	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	NT5DC2_ENST00000459839.1_Missense_Mutation_p.R500H|NT5DC2_ENST00000307092.4_Missense_Mutation_p.R429H|NT5DC2_ENST00000422318.2_Missense_Mutation_p.R525H	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	488							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CGGCGTACGGCGTGGGTAGAA	0.627000													20	45					0	0	1	0	0
NUP85	79902	broad.mit.edu	37	17	73228042	73228042	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:73228042G>A	ENST00000447371.2	+	13	1284	c.860G>A	c.(859-861)cGg>cAg	p.R287Q	NUP85_ENST00000579324.1_Missense_Mutation_p.R343Q|NUP85_ENST00000540768.1_Missense_Mutation_p.R58Q|NUP85_ENST00000245544.4_Missense_Mutation_p.R455Q|NUP85_ENST00000541827.1_Missense_Mutation_p.R409Q|NUP85_ENST00000579298.1_Missense_Mutation_p.R410Q			Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	455					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			AAGGTGCTGCGGATCTGTGAG	0.587000													7	37					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240072501	240072501	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:240072501C>A	ENST00000255380.4	+	5	2529	c.1750C>A	c.(1750-1752)Cgc>Agc	p.R584S		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	584					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TTTTCACAAGCGCGCACCCGA	0.517000													13	72					3.03607e-14	3.61466e-14	1	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33549336	33549336	+	Silent	SNP	C	C	T	rs149971505		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:33549336C>T	ENST00000504830.1	-	21	4613	c.4278G>A	c.(4276-4278)gcG>gcA	p.A1426A	ADAMTS12_ENST00000352040.3_Silent_p.A1341A	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1426	TSP type-1 7.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCACCTGCCACGCCTCACAGG	0.587000										HNSCC(64;0.19)			10	54					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166482	19166482	+	Missense_Mutation	SNP	C	C	T	rs150131445		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:19166482C>T	ENST00000375371.3	-	6	2152	c.2131G>A	c.(2131-2133)Gat>Aat	p.D711N		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	711					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TTGGGGTCATCGGGGTCAGTA	0.547000													22	84					0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1816098	1816098	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:1816098A>G	ENST00000250894.4	+	21	2738	c.2581A>G	c.(2581-2583)Aac>Gac	p.N861D	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.N855D	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	861					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GCCGCGGAGCAACTGCTCCTC	0.677000													13	43					0	0	1	0	0
SERINC5	256987	broad.mit.edu	37	5	79465311	79465311	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:79465311T>C	ENST00000507668.2	-	6	760	c.610A>G	c.(610-612)Atc>Gtc	p.I204V	SERINC5_ENST00000512721.1_Missense_Mutation_p.I204V|SERINC5_ENST00000509193.1_Missense_Mutation_p.I204V|SERINC5_ENST00000512972.2_Missense_Mutation_p.I204V	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	204					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GAATACATGATGAGCGTCACC	0.507000													6	40					0	0	1	0	0
GJC2	57165	broad.mit.edu	37	1	228345796	228345796	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:228345796G>T	ENST00000366714.2	+	2	512	c.337G>T	c.(337-339)Gcc>Tcc	p.A113S		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	113					cell death	connexon complex|integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				gcggcgccgcgccctccgccg	0.771000													4	13					0.014758	0.0149955	1	1	0
UNC119B	84747	broad.mit.edu	37	12	121154761	121154761	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:121154761G>T	ENST00000344651.4	+	4	599	c.559G>T	c.(559-561)Gac>Tac	p.D187Y		NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	187										breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAAAAACTTTGACTTTGATTT	0.453000													27	115					6.36457e-07	7.03725e-07	1	1	0
ACADM	34	broad.mit.edu	37	1	76198771	76198771	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:76198771C>T	ENST00000370834.5	+	5	401	c.322C>T	c.(322-324)Cta>Tta	p.L108L	ACADM_ENST00000420607.2_Intron|ACADM_ENST00000541113.1_Intron|ACADM_ENST00000543667.1_Intron|ACADM_ENST00000370841.4_Intron			P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	95					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						AGCTTGCACTCTATACCTAGA	0.388000													5	44					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32134547	32134547	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:32134547T>C	ENST00000312561.4	+	4	1072	c.658T>C	c.(658-660)Tac>Cac	p.Y220H	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		GCTATACCGTTACTCACCACA	0.368000													21	98					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188281	140188281	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:140188281G>A	ENST00000530339.1	+	1	1509	c.1509G>A	c.(1507-1509)gcG>gcA	p.A503A	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Silent_p.A503A|PCDHA4_ENST00000356878.4_Silent_p.A503A|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGCGCGCGCTGTCGAGCT	0.662000													16	68					0	0	1	0	0
PARK2	5071	broad.mit.edu	37	6	162683714	162683714	+	Silent	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:162683714G>T	ENST00000366898.1	-	3	357	c.255C>A	c.(253-255)ggC>ggA	p.G85G	PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366892.1_Silent_p.G85G|PARK2_ENST00000366897.1_Silent_p.G85G|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366894.1_Intron	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	85					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TGGGGTCGTCGCCTCCAGTTG	0.577000													11	47					1.58986e-06	1.74589e-06	1	1	0
GCNT1	2650	broad.mit.edu	37	9	79118535	79118535	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:79118535G>A	ENST00000442371.1	+	3	2177	c.1238G>A	c.(1237-1239)tGt>tAt	p.C413Y	GCNT1_ENST00000376730.4_Missense_Mutation_p.C413Y|GCNT1_ENST00000536223.1_Missense_Mutation_p.C413Y|GCNT1_ENST00000444201.2_Missense_Mutation_p.C413Y	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	413	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GCCATCCAGTGTTTGGATGAG	0.433000													6	111					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179399451	179399451	+	Missense_Mutation	SNP	C	C	T	rs55669553	by1000genomes	TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:179399451C>T	ENST00000589042.1	-	358	102115	c.101891G>A	c.(101890-101892)cGt>cAt	p.R33964H	TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R24899H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R31396H|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R25024H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R32323H|TTN_ENST00000342175.6_Missense_Mutation_p.R25091H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32323	Ig-like 150.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCAGCTGACGGGCTTGACC	0.433000													13	56					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16957464	16957464	+	RNA	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:16957464G>A	ENST00000412962.1	-	0	214																											AGGCCGGGGAGGGGCCTCTGC	0.701000													3	9					0	0	1	0	0
TPPP	11076	broad.mit.edu	37	5	678032	678032	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:678032G>A	ENST00000360578.5	-	2	265	c.144C>T	c.(142-144)ctC>ctT	p.L48L		NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	48	Mediates interaction with LIMK1.				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CCAGGGCACTGAGCTCAGGGG	0.697000													4	35					0	0	1	0	0
SLC16A4	9122	broad.mit.edu	37	1	110925481	110925481	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:110925481G>A	ENST00000369779.4	-	3	444	c.195C>T	c.(193-195)atC>atT	p.I65I	SLC16A4_ENST00000472422.2_Silent_p.I65I|SLC16A4_ENST00000437429.2_Intron|LAMTOR5-AS1_ENST00000590413.1_RNA|SLC16A4_ENST00000541986.1_Intron|SLC16A4_ENST00000497687.1_Intron|SLC16A4_ENST00000369781.4_Silent_p.I65I	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	65						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	GAGATGACATGATGGATCCAA	0.413000													5	102					0	0	1	0	0
GPR141	353345	broad.mit.edu	37	7	37780720	37780720	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:37780720A>G	ENST00000447769.1	+	4	1014	c.725A>G	c.(724-726)cAg>cGg	p.Q242R	GPR141_ENST00000334425.1_Missense_Mutation_p.Q242R|GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	242						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTCCCTACCAGTTCTTTAGG	0.408000													23	132					0	0	1	0	0
EPS15L1	58513	broad.mit.edu	37	19	16515465	16515465	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:16515465C>T	ENST00000602009.1	-	8	1795	c.900G>A	c.(898-900)caG>caA	p.Q300Q	EPS15L1_ENST00000535753.2_Silent_p.Q454Q|EPS15L1_ENST00000248070.6_Silent_p.Q454Q|EPS15L1_ENST00000455140.2_Silent_p.Q454Q|EPS15L1_ENST00000597937.1_Silent_p.Q454Q|EPS15L1_ENST00000594975.1_Silent_p.Q454Q			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	454	EH 3.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TGGCCTTCTGCTGGTCCATCT	0.587000													7	61					0	0	1	0	0
TMEM248	55069	broad.mit.edu	37	7	66406931	66406931	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:66406931G>A	ENST00000341567.4	+	2	334	c.79G>A	c.(79-81)Gta>Ata	p.V27I		NM_017994.4	NP_060464.1			transmembrane protein 248																		CATGATCAGCGTAAGCGCCAT	0.498000													26	96					0	0	1	0	0
CSTF2	1478	broad.mit.edu	37	X	100093251	100093251	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:100093251A>G	ENST00000415585.2	+	14	1717	c.1695A>G	c.(1693-1695)ctA>ctG	p.L565L	CSTF2_ENST00000486615.1_3'UTR|CSTF2_ENST00000372972.2_Silent_p.L545L			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	545	Interaction with RPO2TC1.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						TGCAGGTTCTACAACTGACTG	0.398000													14	47					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32693563	32693563	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:32693563C>G	ENST00000421745.2	+	29	5973	c.5839C>G	c.(5839-5841)Cta>Gta	p.L1947V		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1947					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCTTCCTCCTCTAAACAGTGC	0.353000													6	99					0	0	1	0	0
ERF	2077	broad.mit.edu	37	19	42753391	42753391	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:42753391G>A	ENST00000222329.4	-	4	1030	c.873C>T	c.(871-873)ggC>ggT	p.G291G	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Silent_p.G216G	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	291	Poly-Gly.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				TGGGCCCCCCGCCACCACTGG	0.677000													6	11					0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75013576	75013576	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:75013576C>T	ENST00000379727.3	-	5	1328	c.1130G>A	c.(1129-1131)cGa>cAa	p.R377Q	CYP1A1_ENST00000395049.4_Missense_Mutation_p.R377Q|CYP1A1_ENST00000395048.2_Missense_Mutation_p.R377Q|CYP1A1_ENST00000567032.1_Missense_Mutation_p.R377Q|CYP1A1_ENST00000564596.1_Missense_Mutation_p.R116Q			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	377					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	p.R377Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GGAAGAGTGTCGGAAGGTCTC	0.567000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				11	108					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876508	35876508	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:35876508G>T	ENST00000303115.3	+	8	1429	c.1300G>T	c.(1300-1302)Ggt>Tgt	p.G434C	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	434					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AGTTGCTCAGGGTCAGCCCAT	0.493000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						12	47					2.80697e-09	3.21005e-09	1	1	0
ELP5	23587	broad.mit.edu	37	17	7161910	7161910	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:7161910C>G	ENST00000574993.1	+	6	860	c.643C>G	c.(643-645)Cag>Gag	p.Q215E	ELP5_ENST00000396627.2_Missense_Mutation_p.Q215E|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000396628.2_Missense_Mutation_p.Q215E|ELP5_ENST00000354429.2_Missense_Mutation_p.Q215E|ELP5_ENST00000356683.2_Missense_Mutation_p.Q215E					elongator acetyltransferase complex subunit 5																		TCTCCAGACTCAGTGGTTCTC	0.483000													20	154					0	0	1	0	0
TMEM145	284339	broad.mit.edu	37	19	42821935	42821935	+	Silent	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:42821935G>T	ENST00000598766.1	+	12	1047	c.1047G>T	c.(1045-1047)gcG>gcT	p.A349A	TMEM145_ENST00000301204.3_Silent_p.A325A			Q8NBT3	TM145_HUMAN	transmembrane protein 145	325						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				TGCAGGTGGCGGCCTACGTGT	0.562000													17	77					8.60227e-14	1.02279e-13	1	1	0
DNM1L	10059	broad.mit.edu	37	12	32866201	32866201	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:32866201G>A	ENST00000452533.2	+	6	679	c.515G>A	c.(514-516)cGg>cAg	p.R172Q	DNM1L_ENST00000553257.1_Missense_Mutation_p.R185Q|DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000549701.1_Missense_Mutation_p.R172Q|DNM1L_ENST00000547312.1_Missense_Mutation_p.R172Q|DNM1L_ENST00000358214.5_Missense_Mutation_p.R185Q|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000266481.6_Missense_Mutation_p.R172Q|DNM1L_ENST00000381000.4_Missense_Mutation_p.R185Q	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	172	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTCATTCTTCGGTTCATCAGT	0.388000													17	71					0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173997177	173997177	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:173997177C>T	ENST00000457714.1	+	6	1815	c.1386C>T	c.(1384-1386)gaC>gaT	p.D462D	NLGN1_ENST00000401917.3_Silent_p.D502D|NLGN1_ENST00000361589.4_Silent_p.D462D|NLGN1_ENST00000545397.1_Silent_p.D462D	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	479					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TGTTTACGGACCATCAGTGGG	0.443000													17	83					0	0	1	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90535905	90535905	+	RNA	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:90535905C>A	ENST00000602681.1	+	0	1809																											AGGCTCAGGCCCATCTTCAAT	0.562000													35	315					3.94638e-17	4.75934e-17	1	1	0
CCRN4L	25819	broad.mit.edu	37	4	139964452	139964452	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:139964452A>G	ENST00000280614.2	+	2	608	c.415A>G	c.(415-417)Acc>Gcc	p.T139A	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	139					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					TTGCCCTAGTACCCACCCACC	0.532000													8	114					0	0	1	0	0
RASL12	51285	broad.mit.edu	37	15	65347378	65347378	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:65347378G>A	ENST00000220062.4	-	5	936	c.660C>T	c.(658-660)acC>acT	p.T220T	RASL12_ENST00000434605.2_Silent_p.T209T|RASL12_ENST00000421977.3_Silent_p.T201T	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	220					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						GCGTGTTGAAGGTGCAGCTGG	0.672000													4	20					0	0	1	0	0
GPR182	11318	broad.mit.edu	37	12	57389350	57389350	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:57389350G>C	ENST00000300098.1	+	2	576	c.357G>C	c.(355-357)tgG>tgC	p.W119C		NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	119						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						ACTACACCTGGCTCTGGGGCA	0.557000													10	67					0	0	1	0	0
CDK4	1019	broad.mit.edu	37	12	58144537	58144537	+	Silent	SNP	G	G	C	rs11547327		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:58144537G>C	ENST00000257904.6	-	5	899	c.534C>G	c.(532-534)ctC>ctG	p.L178L	CDK4_ENST00000551888.1_Intron|CDK4_ENST00000312990.6_Intron|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000540325.1_Silent_p.L58L	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	178	Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CTCGGTACCAGAGTGTAACAA	0.468000			Mis			melanoma			Hereditary Melanoma				7	80					0	0	1	0	0
CDAN1	146059	broad.mit.edu	37	15	43021435	43021435	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:43021435C>T	ENST00000356231.3	-	18	2556	c.2533G>A	c.(2533-2535)Ggg>Agg	p.G845R		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	845						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		ACCTGCAGCCCCTGGCTGGTC	0.662000													17	59					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237711757	237711757	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:237711757C>G	ENST00000366574.2	+	26	3250	c.2933C>G	c.(2932-2934)cCt>cGt	p.P978R	RYR2_ENST00000542537.1_Missense_Mutation_p.P962R|RYR2_ENST00000360064.6_Missense_Mutation_p.P976R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	978	4 X approximate repeats.				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)			GGATACAAGCCTGCCCCTATG	0.418000													13	27					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179466784	179466784	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:179466784C>A	ENST00000589042.1	-	284	55438	c.55214G>T	c.(55213-55215)cGc>cTc	p.R18405L	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9340L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15837L|TTN_ENST00000359218.5_Missense_Mutation_p.R9465L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16764L|TTN_ENST00000342175.6_Missense_Mutation_p.R9532L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16764	Fibronectin type-III 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTGTTGGGCGTCCCTTGAT	0.413000													12	79					2.27111e-07	2.52377e-07	1	1	0
ANK2	287	broad.mit.edu	37	4	114163342	114163342	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:114163342G>A	ENST00000357077.4	+	9	921	c.868G>A	c.(868-870)Ggt>Agt	p.G290S	ANK2_ENST00000264366.6_Missense_Mutation_p.G290S|ANK2_ENST00000506722.1_Missense_Mutation_p.G269S|ANK2_ENST00000394537.3_Missense_Mutation_p.G290S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	290					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GGATCGAGGCGGTCAGATCGA	0.433000													13	61					0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40661144	40661144	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:40661144G>A	ENST00000267889.3	+	8	2918	c.2831G>A	c.(2830-2832)cGt>cAt	p.R944H	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	944					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GGCCTCCGCCGTGGTTGGTTC	0.622000													17	93					0	0	1	0	0
KDM3A	55818	broad.mit.edu	37	2	86705316	86705316	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:86705316T>C	ENST00000409556.1	+	15	2481	c.2116T>C	c.(2116-2118)Tgg>Cgg	p.W706R	KDM3A_ENST00000312912.5_Missense_Mutation_p.W706R|KDM3A_ENST00000542128.1_Missense_Mutation_p.W654R|KDM3A_ENST00000409064.1_Missense_Mutation_p.W706R			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	706					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GACTTTCTCTTGGCTAAAATG	0.403000													17	92					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10971326	10971326	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr21:10971326C>T	ENST00000298232.7	-	5	398	c.31G>A	c.(31-33)Gcg>Acg	p.A11T	TPTE_ENST00000342420.5_Missense_Mutation_p.A11T|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.A11T	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	11					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATGACTCCCGCCAGGTCAGTC	0.448000													6	52					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228469872	228469872	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:228469872G>A	ENST00000570156.2	+	36	9797	c.9723G>A	c.(9721-9723)cgG>cgA	p.R3241R	OBSCN_ENST00000284548.11_Silent_p.R2812R|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.R1659R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.R2812R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2275	Ig-like 32.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCTCTGTGCGGGGCCTCACCT	0.657000													11	24					0	0	1	0	0
TRIM4	89122	broad.mit.edu	37	7	99490316	99490316	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:99490316C>A	ENST00000355947.2	-	7	1102	c.973G>T	c.(973-975)Gaa>Taa	p.E325*	TRIM4_ENST00000349062.2_Nonsense_Mutation_p.E299*	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	325	B30.2/SPRY.				protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				TATCTCCCTTCCTGGGAGAAG	0.473000													23	56					1.22574e-08	1.39185e-08	1	1	0
DPYSL5	56896	broad.mit.edu	37	2	27164933	27164933	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:27164933T>A	ENST00000288699.6	+	10	1363	c.1205T>A	c.(1204-1206)gTg>gAg	p.V402E	DPYSL5_ENST00000401478.1_Missense_Mutation_p.V402E	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	402					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGCTGATGTGGTGGTGTGG	0.527000											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	120					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38702370	38702370	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:38702370A>G	ENST00000359357.3	+	3	334	c.80A>G	c.(79-81)gAt>gGt	p.D27G	DNAH8_ENST00000449981.2_Missense_Mutation_p.D244G|DNAH8_ENST00000441566.1_Missense_Mutation_p.D27G					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGCCGTAATGATGTTGCTATA	0.318000													21	109					0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142561835	142561835	+	Silent	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:142561835G>T	ENST00000295992.3	-	4	810	c.504C>A	c.(502-504)ccC>ccA	p.P168P	PCOLCE2_ENST00000485766.1_Silent_p.P168P	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	168	CUB 2.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CTGGCCAGTTGGGGGTTTTAA	0.473000													21	59					4.96729e-08	5.57598e-08	1	1	0
ZNF71	58491	broad.mit.edu	37	19	57134042	57134042	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:57134042G>A	ENST00000328070.6	+	3	1621	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	463						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CCACACGGGCGAGAAGCCCTA	0.647000													7	61					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117432211	117432211	+	Missense_Mutation	SNP	T	T	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:117432211T>G	ENST00000160373.3	-	4	1130	c.1039A>C	c.(1039-1041)Acc>Ccc	p.T347P		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	347										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GTGGCACTGGTGCACACGCTC	0.502000													41	133					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6986274	6986274	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:6986274T>C	ENST00000389658.3	-	37	5334	c.5241A>G	c.(5239-5241)aaA>aaG	p.K1747K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1747	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGCTGCTTCTTTCAATACCT	0.453000													18	84					0	0	1	0	0
CTRL	1506	broad.mit.edu	37	16	67965100	67965100	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:67965100G>T	ENST00000574481.1	-	2	618	c.57C>A	c.(55-57)tgC>tgA	p.C19*	CTRL_ENST00000576408.1_Intron|CTC-479C5.12_ENST00000573493.1_Intron	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	19					digestion|proteolysis	extracellular space	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CAGGAATGCCGCAGCCTGGCC	0.617000													13	34					0.00136819	0.00141709	1	1	0
SPG20	23111	broad.mit.edu	37	13	36909299	36909299	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr13:36909299C>G	ENST00000451493.1	-	2	886	c.669G>C	c.(667-669)ttG>ttC	p.L223F	SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000355182.4_Missense_Mutation_p.L223F|SPG20_ENST00000438666.2_Missense_Mutation_p.L223F|SPG20_ENST00000494062.2_Missense_Mutation_p.L223F	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	223					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CATTTGGTATCAAAATCAATT	0.423000													8	82					0	0	1	0	0
SURF4	6836	broad.mit.edu	37	9	136230385	136230385	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:136230385T>C	ENST00000371989.3	-	6	923	c.794A>G	c.(793-795)aAg>aGg	p.K265R	SURF4_ENST00000485435.2_Intron|SURF4_ENST00000545297.1_3'UTR	NM_033161.2	NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	265						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CTCCTTCTTCTTCTCATCCAT	0.557000													9	41					0	0	1	0	0
WISP1	8840	broad.mit.edu	37	8	134225387	134225387	+	Splice_Site	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:134225387G>A	ENST00000250160.6	+	2	455		c.e2+1		WISP1_ENST00000220856.6_Splice_Site|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000517423.1_Splice_Site	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1						cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GTGTGTGCACGTAAGTGAGTC	0.637000													8	66					0	0	1	0	0
SLC25A5	292	broad.mit.edu	37	X	118603885	118603885	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:118603885G>A	ENST00000317881.8	+	2	489	c.373G>A	c.(373-375)Gcc>Acc	p.A125T	SLC25A5_ENST00000460013.1_3'UTR	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	125					chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	TGCCGCAGGGGCCACATCCCT	0.532000													58	63					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436164	248436164	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:248436164C>T	ENST00000318021.2	-	1	974	c.953G>A	c.(952-954)aGg>aAg	p.R318K		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	318					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCATCTTGACCTGTGGGCCTC	0.408000													38	233					0	0	1	0	0
SFPQ	6421	broad.mit.edu	37	1	35653600	35653600	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:35653600A>G	ENST00000357214.5	-	7	1887	c.1789T>C	c.(1789-1791)Tac>Cac	p.Y597H		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	597					alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				ATTCGGCTGTAACTTTCCTCT	0.448000			T	TFE3	papillary renal cell								21	134					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1833815	1833815	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:1833815A>T	ENST00000518288.1	+	12	1362	c.1199A>T	c.(1198-1200)gAc>gTc	p.D400V	ARHGEF10_ENST00000349830.3_Missense_Mutation_p.D375V|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.D337V|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.D400V|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.D361V|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.D400V			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	400					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ATTGATGTTGACTGCAAGCAC	0.433000													6	51					0	0	1	0	0
DKK1	22943	broad.mit.edu	37	10	54074434	54074434	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:54074434C>T	ENST00000373970.3	+	1	379	c.240C>T	c.(238-240)taC>taT	p.Y80Y		NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	80					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						TTGACAACTACCAGGTGAGAG	0.622000											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	59					0	0	1	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73168828	73168828	+	Silent	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:73168828A>T	ENST00000545377.1	+	22	2747	c.2571A>T	c.(2569-2571)ctA>ctT	p.L857L	ARHGEF28_ENST00000437974.1_Silent_p.L857L|ARHGEF28_ENST00000296799.4_Silent_p.L544L|ARHGEF28_ENST00000426542.2_Silent_p.L857L|ARHGEF28_ENST00000296794.6_Silent_p.L857L|ARHGEF28_ENST00000287898.5_Silent_p.L857L|ARHGEF28_ENST00000513042.2_Silent_p.L857L	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		TTTCAGAGCTAATGCAAACAG	0.418000													7	39					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157508987	157508987	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:157508987C>T	ENST00000361835.3	-	7	1448	c.1291G>A	c.(1291-1293)Gga>Aga	p.G431R	FCRL5_ENST00000368190.3_Missense_Mutation_p.G431R|FCRL5_ENST00000368191.3_Missense_Mutation_p.G346R|FCRL5_ENST00000368189.3_Missense_Mutation_p.G431R|FCRL5_ENST00000356953.4_Missense_Mutation_p.G431R	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	431	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity	p.G431*(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ATGGCCACTCCTCCTGCAGAG	0.572000													16	65					0	0	1	0	0
SAMM50	25813	broad.mit.edu	37	22	44368855	44368855	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr22:44368855A>G	ENST00000350028.4	+	6	691	c.534A>G	c.(532-534)aaA>aaG	p.K178K	SAMM50_ENST00000396202.3_5'UTR|SAMM50_ENST00000493161.1_3'UTR	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	178					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CCTTCTTCAAACCACGGCCCG	0.428000													29	77					0	0	1	0	0
BEND6	221336	broad.mit.edu	37	6	56857346	56857346	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:56857346G>T	ENST00000370748.3	+	3	726	c.291G>T	c.(289-291)atG>atT	p.M97I	BEND6_ENST00000370746.3_Missense_Mutation_p.M97I|BEND6_ENST00000370745.1_Missense_Mutation_p.M97I|BEND6_ENST00000370750.2_Missense_Mutation_p.M97I			Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	97										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						CTTTGGTCATGCTTCAAGGTA	0.348000													22	125					2.98393e-07	3.31381e-07	1	1	0
PADI3	51702	broad.mit.edu	37	1	17594366	17594366	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:17594366G>A	ENST00000375460.3	+	6	601	c.561G>A	c.(559-561)acG>acA	p.T187T		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	187					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TCCTGCGGACGCAGGGCCCTG	0.577000													20	66					0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110777747	110777747	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:110777747G>T	ENST00000368919.3	-	2	593	c.527C>A	c.(526-528)tCt>tAt	p.S176Y	SLC22A16_ENST00000330550.4_Missense_Mutation_p.S142Y|SLC22A16_ENST00000456137.2_Missense_Mutation_p.S176Y|SLC22A16_ENST00000439654.1_Missense_Mutation_p.S176Y|SLC22A16_ENST00000461487.1_5'UTR	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	176					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		TTACCTGTCAGAAAAGTAGCC	0.403000													32	170					8.16721e-17	9.83626e-17	1	1	0
BEND3	57673	broad.mit.edu	37	6	107391046	107391046	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:107391046A>T	ENST00000429433.2	-	5	1998	c.1349T>A	c.(1348-1350)aTc>aAc	p.I450N	BEND3_ENST00000369042.1_Missense_Mutation_p.I450N	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	450	BEN 2.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GTTGCGGATGATCTGCAGCCG	0.632000													8	30					0	0	1	0	0
TRAF5	7188	broad.mit.edu	37	1	211545756	211545756	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:211545756C>T	ENST00000261464.5	+	11	1440	c.1386C>T	c.(1384-1386)taC>taT	p.Y462Y	TRAF5_ENST00000336184.2_Silent_p.Y462Y|TRAF5_ENST00000427925.2_Silent_p.Y356Y|TRAF5_ENST00000367004.3_Silent_p.Y462Y	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	462	MATH.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TGTCCCTATACTTTGTGGTCA	0.547000													53	129					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73049004	73049004	+	RNA	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:73049004G>T	ENST00000604411.1	+	0	36965				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						ACCTGCTGAAGACTCAGCTCT	0.418000													4	17					0.00909568	0.00931162	1	1	0
KCNK6	9424	broad.mit.edu	37	19	38817629	38817629	+	Splice_Site	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:38817629G>A	ENST00000263372.3	+	2	825		c.e2+1			NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6							voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CTGGTCACAGGTGAGCTGGGT	0.627000													15	81					0	0	1	0	0
ADRA1D	146	broad.mit.edu	37	20	4229214	4229214	+	Missense_Mutation	SNP	T	T	C	rs143193337		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:4229214T>C	ENST00000379453.4	-	1	507	c.391A>G	c.(391-393)Acc>Gcc	p.T131A		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	131					cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	AAATAGTTGGTGACGGTCTGC	0.622000													5	32					0	0	1	0	0
PRKD2	25865	broad.mit.edu	37	19	47207625	47207625	+	Silent	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:47207625C>G	ENST00000433867.1	-	6	1167	c.690G>C	c.(688-690)ctG>ctC	p.L230L	PRKD2_ENST00000601806.1_Silent_p.L73L|PRKD2_ENST00000600194.1_Silent_p.L73L|PRKD2_ENST00000595515.1_Silent_p.L230L|PRKD2_ENST00000291281.4_Silent_p.L230L	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	230					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GACGGCGAGGCAGGAGTTCGG	0.617000											OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	119					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409020	105409020	+	Silent	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:105409020G>T	ENST00000333244.5	-	7	12887	c.12768C>A	c.(12766-12768)gtC>gtA	p.V4256V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4256						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACACCTCCACGACGGGGGTCA	0.647000													52	256					6.23363e-37	7.62703e-37	1	1	0
ATAD3B	83858	broad.mit.edu	37	1	1431178	1431178	+	Missense_Mutation	SNP	C	C	T	rs148302536	byFrequency	TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:1431178C>T	ENST00000308647.7	+	16	2044	c.1928C>T	c.(1927-1929)cCa>cTa	p.P643L		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	643							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TTCTGCCCCCCAGGGCACCCC	0.642000													4	41					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166027017	166027017	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:166027017G>T	ENST00000360093.3	-	4	797	c.306C>A	c.(304-306)ttC>ttA	p.F102L	SCN3A_ENST00000283254.7_Missense_Mutation_p.F102L|SCN3A_ENST00000409101.3_Missense_Mutation_p.F102L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	102						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGGTGGCACTGAATCGGAAAA	0.318000													12	48					3.07112e-06	3.35583e-06	1	1	0
RHCG	51458	broad.mit.edu	37	15	90021104	90021104	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:90021104G>A	ENST00000268122.4	-	6	1007	c.939C>T	c.(937-939)tgC>tgT	p.C313C	RHCG_ENST00000544600.1_Silent_p.C313C	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	313					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					AGATGATGCCGCAGACGAAGC	0.587000													5	42					0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36208792	36208792	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:36208792A>T	ENST00000251195.5	-	18	3189	c.3093T>A	c.(3091-3093)gaT>gaA	p.D1031E	CLSPN_ENST00000520551.1_Missense_Mutation_p.D978E|CLSPN_ENST00000318121.3_Missense_Mutation_p.D1031E|CLSPN_ENST00000373220.3_Missense_Mutation_p.D967E|RP11-435D7.3_ENST00000373226.2_RNA			Q9HAW4	CLSPN_HUMAN	claspin	1031					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTCATCATCATCTTCATGGT	0.378000													9	116					0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247463920	247463920	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:247463920G>A	ENST00000294753.4	-	9	2129	c.1665C>T	c.(1663-1665)tgC>tgT	p.C555C	ZNF496_ENST00000366498.2_Silent_p.C591C|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	555					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CGCAGTACCGGCACTGGAAGG	0.617000													19	100					0	0	1	0	0
WLS	79971	broad.mit.edu	37	1	68659685	68659685	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:68659685A>G	ENST00000262348.4	-	2	585	c.332T>C	c.(331-333)cTg>cCg	p.L111P	WLS_ENST00000354777.2_Missense_Mutation_p.L109P|GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000540432.1_Missense_Mutation_p.L111P|WLS_ENST00000370971.1_Missense_Mutation_p.L111P|WLS_ENST00000370976.3_Intron	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	111	Interacts with Wnt proteins (By similarity).				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						CAGGATAAACAGCATGAATTG	0.453000													14	92					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153221812	153221812	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:153221812C>T	ENST00000310441.7	-	16	3652	c.2686G>A	c.(2686-2688)Ggg>Agg	p.G896R	HCFC1_ENST00000369984.4_Missense_Mutation_p.G896R|HCFC1_ENST00000354233.3_Missense_Mutation_p.G827R	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	896	Interaction with GABP2.|Interaction with ZBTB17.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCCCGCCCCGGCAAGGCTG	0.632000													20	64					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181706743	181706743	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:181706743G>A	ENST00000526775.1	+	22	3613	c.3448G>A	c.(3448-3450)Gcc>Acc	p.A1150T	CACNA1E_ENST00000367573.2_Missense_Mutation_p.A1169T|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A1101T|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A1120T|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A1150T|CACNA1E_ENST00000367567.4_Missense_Mutation_p.A776T|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A1169T	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1169					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAGCAGCATCGCCCTGGCGGC	0.627000													8	182					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111090965	111090965	+	Splice_Site	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr13:111090965G>A	ENST00000360467.5	+	15	1168	c.861_splice	c.e15-1	p.G288_splice		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	288	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TCTCTCCTAGGGCATTTCCTT	0.542000													7	108					0	0	1	0	0
COPRS	55352	broad.mit.edu	37	17	30183823	30183823	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:30183823C>G	ENST00000378634.2	-	2	378	c.125G>C	c.(124-126)cGa>cCa	p.R42P	COPRS_ENST00000302362.6_Missense_Mutation_p.R54P					coordinator of PRMT5, differentiation stimulator																		CTTGCCTAGTCGATCCATAGC	0.498000													90	388					0	0	1	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159797578	159797578	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:159797578C>A	ENST00000393975.3	-	1	70	c.67G>T	c.(67-69)Gag>Tag	p.E23*		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	0						collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGGCGGGGCTCCGCGTCCCGG	0.726000													3	4					0.004672	0.00480238	1	1	0
SUPT5H	6829	broad.mit.edu	37	19	39962243	39962243	+	Splice_Site	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:39962243A>G	ENST00000599117.1	+	21	2191		c.e21-1		SUPT5H_ENST00000432763.2_Splice_Site|SUPT5H_ENST00000402194.2_Splice_Site|SUPT5H_ENST00000598725.1_Splice_Site|SUPT5H_ENST00000359191.6_Splice_Site			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)						cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTCCCCGGCTAGGGCCGAGAA	0.542000													17	50					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110587459	110587459	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:110587459G>A	ENST00000399066.3	-	6	2386	c.1659C>T	c.(1657-1659)ccC>ccT	p.P553P	SYBU_ENST00000422135.1_Silent_p.P556P|SYBU_ENST00000446070.2_Silent_p.P555P|SYBU_ENST00000424158.2_Silent_p.P561P|SYBU_ENST00000528647.1_Silent_p.P555P|SYBU_ENST00000408908.2_Silent_p.P556P|SYBU_ENST00000419099.1_Silent_p.P555P|SYBU_ENST00000529175.1_Silent_p.P350P|SYBU_ENST00000440310.1_Silent_p.P556P|SYBU_ENST00000408889.3_Silent_p.P437P|SYBU_ENST00000433638.1_Silent_p.P556P|SYBU_ENST00000529690.1_Silent_p.P426P|SYBU_ENST00000533895.1_Silent_p.P555P|SYBU_ENST00000528331.1_Silent_p.P437P|SYBU_ENST00000533171.1_Silent_p.P556P|SYBU_ENST00000532779.1_Silent_p.P488P|SYBU_ENST00000533065.1_Silent_p.P437P|SYBU_ENST00000276646.9_Silent_p.P556P	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	556						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		p.P553P(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GGGTCTCCACGGGAGACAAAA	0.517000													12	82					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49431869	49431869	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:49431869C>A	ENST00000301067.7	-	34	9269	c.9270G>T	c.(9268-9270)gaG>gaT	p.E3090D		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGGGTCCTGGCTCCACCCCCC	0.627000													4	30					0.00909568	0.00931162	1	1	0
IGLL5	100423062	broad.mit.edu	37	22	23237575	23237575	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr22:23237575A>T	ENST00000532223.1	+	3	623	c.349A>T	c.(349-351)Act>Tct	p.T117S	IGLL5_ENST00000526893.1_Missense_Mutation_p.T116S|IGLL5_ENST00000531372.1_Missense_Mutation_p.H76L|IGLC1_ENST00000390321.2_RNA			B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	116	C region (By similarity to lambda light- chain).|Ig-like C1-type.					extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						GGCCAACCCCACTGTCACTCT	0.587000													6	27					0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761680	55761680	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:55761680T>C	ENST00000278409.1	-	1	421	c.422A>G	c.(421-423)tAc>tGc	p.Y141C		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CATTTTTAGGTAGACGGTCCT	0.512000													9	69					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126708479	126708479	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:126708479G>A	ENST00000251772.4	+	1	1043	c.974G>A	c.(973-975)cGc>cAc	p.R325H	PLXNA1_ENST00000393409.2_Missense_Mutation_p.R348H			Q9UIW2	PLXA1_HUMAN	plexin A1	348	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGAAGAACCGCGTGAAGCCA	0.642000													6	141					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29998977	29998977	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:29998977C>T	ENST00000308893.4	+	16	4427	c.3384C>T	c.(3382-3384)ccC>ccT	p.P1128P	TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Silent_p.P1015P|TAOK2_ENST00000416441.2_Silent_p.P955P	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1128					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCCGCCTGCCCGTCCCTGGGC	0.667000													19	73					0	0	1	0	0
AADACL2	344752	broad.mit.edu	37	3	151461909	151461909	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:151461909A>G	ENST00000356517.3	+	3	499	c.390A>G	c.(388-390)agA>agG	p.R130R		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	130						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TCCTGAATAGATGGACGGCAA	0.353000													19	70					0	0	1	0	0
COQ5	84274	broad.mit.edu	37	12	120954577	120954577	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:120954577G>A	ENST00000288532.6	-	3	407	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	COQ5_ENST00000445328.2_Intron	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	123					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTAAGGAACCGGAATGCAATG	0.408000													30	132					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109793738	109793738	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:109793738C>T	ENST00000271332.3	+	1	1098	c.1037C>T	c.(1036-1038)tCt>tTt	p.S346F		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	346	Cadherin 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GACCCTCGCTCTGGGGTGATC	0.632000													10	72					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9073568	9073568	+	Silent	SNP	A	A	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:9073568A>C	ENST00000397910.4	-	3	14081	c.13878T>G	c.(13876-13878)tcT>tcG	p.S4626S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4628	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGCCCCCACAGACACATTGG	0.463000													7	81					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145533871	145533871	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:145533871T>A	ENST00000369304.3	+	13	1692	c.1517T>A	c.(1516-1518)gTg>gAg	p.V506E	ITGA10_ENST00000538811.1_Missense_Mutation_p.V375E|ITGA10_ENST00000539363.1_Missense_Mutation_p.V363E	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	506					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTCTTACTTGTGGCTGCCCCC	0.532000													14	78					0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8007624	8007624	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:8007624G>A	ENST00000344293.5	+	3	2357	c.2151G>A	c.(2149-2151)gaG>gaA	p.E717E		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	717	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						aagagaaggagaagaaggaga	0.378000													3	42					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2162448	2162448	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:2162448G>A	ENST00000262304.4	-	14	3396	c.3188C>T	c.(3187-3189)gCc>gTc	p.A1063V	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.A1063V	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1063	PKD 5.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTGGTGGAGGGCCTGCTCCCC	0.677000													5	18					0	0	1	0	0
CA9	768	broad.mit.edu	37	9	35674214	35674214	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:35674214G>C	ENST00000378357.4	+	1	362	c.258G>C	c.(256-258)gaG>gaC	p.E86D		NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	86	Proteoglycan-like (PG).				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TACCTGGAGAGGAGGATCTAC	0.542000													8	38					0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9863586	9863586	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:9863586C>T	ENST00000380913.3	+	4	1728	c.1638C>T	c.(1636-1638)tcC>tcT	p.S546S		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	546					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AGGGCTGCTCCGCGGGAGCCC	0.677000													4	4					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24798678	24798678	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:24798678C>T	ENST00000310677.4	-	10	1392	c.1279G>A	c.(1279-1281)Gca>Aca	p.A427T	ADCY4_ENST00000554068.2_Missense_Mutation_p.A427T|ADCY4_ENST00000418030.2_Missense_Mutation_p.A427T|ADCY4_ENST00000396747.3_Missense_Mutation_p.A120T	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	427					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	p.A427T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TCCATGCCTGCGTCCTCCACA	0.647000													20	65					0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58562572	58562572	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:58562572G>A	ENST00000348616.4	+	8	1202	c.902G>A	c.(901-903)cGa>cAa	p.R301Q	CDH26_ENST00000244047.5_Missense_Mutation_p.R301Q	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	301	Cadherin 3.		R -> G (in dbSNP:rs11086690).		homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GTTCAAGATCGAGATTCTCCA	0.458000													14	59					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1262578	1262578	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:1262578C>A	ENST00000447027.1	+	31	4535	c.4477C>A	c.(4477-4479)Ccc>Acc	p.P1493T	MUC5B_ENST00000529681.1_Missense_Mutation_p.P1490T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1490	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCTCAGGCCCCGTGACGGT	0.642000													8	22					0.0381472	0.0386279	1	1	0
TPSAB1	7177	broad.mit.edu	37	16	1291156	1291156	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:1291156C>A	ENST00000461509.2	+	2	279	c.85C>A	c.(85-87)Cca>Aca	p.P29T	TPSAB1_ENST00000338844.3_Missense_Mutation_p.P22T			P20231	TRYB2_HUMAN	tryptase alpha/beta 1	22					proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				TGCCCCAGCCCCAGGCCAGGC	0.716000													5	27					8.12818e-05	8.65701e-05	1	1	0
MSMP	692094	broad.mit.edu	37	9	35754006	35754006	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:35754006G>T	ENST00000436428.2	-	1	260	c.121C>A	c.(121-123)Caa>Aaa	p.Q41K	MSMP_ENST00000414286.1_Intron|RGP1_ENST00000378078.4_3'UTR	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated	41						extracellular region		p.Q41K(1)		endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						CCTTGAGCTTGGAAGTAGCAC	0.562000													51	298					2.74224e-37	3.35754e-37	1	1	0
BSN	8927	broad.mit.edu	37	3	49695122	49695122	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:49695122G>A	ENST00000296452.4	+	5	8247	c.8133G>A	c.(8131-8133)ggG>ggA	p.G2711G		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2711					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGAAGACTGGGCGTGGGGAGA	0.652000													24	67					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174209	51174209	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:51174209G>T	ENST00000440970.1	-	2	2064	c.1633C>A	c.(1633-1635)Ctg>Atg	p.L545M	SALL1_ENST00000251020.4_Missense_Mutation_p.L642M|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	642					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGGGAGCTCAGGACGCTACTG	0.632000													6	75					0.00198382	0.00204991	1	1	0
CLCN1	1180	broad.mit.edu	37	7	143039182	143039182	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:143039182C>T	ENST00000343257.2	+	15	1830	c.1743C>T	c.(1741-1743)atC>atT	p.I581I		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	581					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ATGACAGCATCATCCAGGTCA	0.537000													14	62					0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46320012	46320012	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:46320012C>T	ENST00000465950.1	-	1	3736	c.2527G>A	c.(2527-2529)Gta>Ata	p.V843I	SCAF11_ENST00000369367.3_Missense_Mutation_p.V1158I|SCAF11_ENST00000549162.1_Missense_Mutation_p.V966I|SCAF11_ENST00000419565.2_Missense_Mutation_p.V1158I			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1158	Arg-rich.				spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TAGTTTTGTACATCTGCTGGC	0.458000													12	155					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370454	35370454	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:35370454C>T	ENST00000373347.1	-	3	799	c.531G>A	c.(529-531)gtG>gtA	p.V177V	DLGAP3_ENST00000235180.4_Silent_p.V177V			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	177					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				AGAGCTTCTGCACAGAATGAA	0.672000													4	43					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115223068	115223068	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:115223068G>A	ENST00000369538.3	-	5	713	c.666C>T	c.(664-666)gaC>gaT	p.D222D	AMPD1_ENST00000520113.2_Silent_p.D226D|AMPD1_ENST00000353928.6_Silent_p.D193D	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	193					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TTCGGAAGGGGTCCTCTCCCT	0.413000													12	103					0	0	1	0	0
MBOAT2	129642	broad.mit.edu	37	2	9013370	9013370	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:9013370A>G	ENST00000305997.3	-	8	949	c.751T>C	c.(751-753)Tgt>Cgt	p.C251R	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	251					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AATGTTGTACAGATGGTCAAG	0.423000													12	42					0	0	1	0	0
SLC23A2	9962	broad.mit.edu	37	20	4880360	4880360	+	Splice_Site	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:4880360T>A	ENST00000379333.1	-	6	717		c.e6-2		SLC23A2_ENST00000424750.2_Splice_Site|SLC23A2_ENST00000338244.1_Splice_Site|SLC23A2_ENST00000468355.1_Splice_Site	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2						L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CAGGTAGTGCTGTGGGCAGGA	0.498000													29	109					0	0	1	0	0
THOC5	8563	broad.mit.edu	37	22	29940579	29940579	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr22:29940579T>C	ENST00000490103.1	-	3	232	c.110A>G	c.(109-111)tAc>tGc	p.Y37C	THOC5_ENST00000397872.1_Missense_Mutation_p.Y37C|THOC5_ENST00000397873.2_Missense_Mutation_p.Y37C|THOC5_ENST00000397871.1_Missense_Mutation_p.Y37C	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	37	Interaction with CSF1R (By similarity).|Interaction with THOC7.				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTCCTCACTGTAGTATTTACC	0.512000													13	67					0	0	1	0	0
MTAP	4507	broad.mit.edu	37	9	21818190	21818190	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:21818190G>A	ENST00000380172.4	+	4	542	c.336G>A	c.(334-336)caG>caA	p.Q112Q	MTAP_ENST00000460874.2_Silent_p.Q129Q|RP11-145E5.5_ENST00000404796.2_Silent_p.Q112Q|MTAP_ENST00000580900.1_Silent_p.Q112Q|MTAP_ENST00000427788.2_3'UTR	NM_002451.3	NP_002442.2	Q13126	MTAP_HUMAN	methylthioadenosine phosphorylase	112					nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	TTATTGATCAGTTCATTGACA	0.493000													8	48					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171358357	171358357	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:171358357G>T	ENST00000334231.6	+	28	3379	c.3379G>T	c.(3379-3381)Gct>Tct	p.A1127S	MYO3B_ENST00000408978.4_Missense_Mutation_p.A1118S|MYO3B_ENST00000409044.3_Intron|MYO3B_ENST00000602629.1_Intron			Q8WXR4	MYO3B_HUMAN	myosin IIIB	1118					response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GAATGAGTCTGCTGCTCATAA	0.348000													9	36					0.000442599	0.000463576	1	1	0
CD151	977	broad.mit.edu	37	11	838174	838174	+	Silent	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:838174C>G	ENST00000397420.3	+	9	993	c.744C>G	c.(742-744)ctC>ctG	p.L248L	CD151_ENST00000397421.1_Silent_p.L248L|CD151_ENST00000322008.4_Silent_p.L248L|CD151_ENST00000528011.1_Silent_p.L246L			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	248					cell adhesion|hemidesmosome assembly	cytosol|integral to plasma membrane|membrane fraction	protein binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGGAGTCTCAAGCTGGAGC	0.612000													4	57					0	0	1	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202910787	202910787	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:202910787C>A	ENST00000340990.5	-	8	1340	c.1042G>T	c.(1042-1044)Gcc>Tcc	p.A348S	ADIPOR1_ENST00000436244.1_Missense_Mutation_p.A348S	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	348					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			TGGACAAAGGCTGCTGCCACC	0.478000													12	92					0.00244969	0.00252983	1	1	0
ABHD11	83451	broad.mit.edu	37	7	73152656	73152656	+	Splice_Site	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:73152656A>G	ENST00000222800.3	-	2	358		c.e2+1		ABHD11_ENST00000395147.4_Splice_Site|ABHD11_ENST00000458339.1_Splice_Site|ABHD11_ENST00000437775.2_Splice_Site|ABHD11_ENST00000468998.1_Splice_Site	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11								hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				TCGAAAGCTCACCCTACGGCC	0.662000													5	24					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50964898	50964898	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:50964898G>A	ENST00000374103.4	-	3	384	c.299C>T	c.(298-300)gCa>gTa	p.A100V	OGDHL_ENST00000432695.1_Intron|OGDHL_ENST00000419399.1_Intron	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	100					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ACTTGAGACTGCAGACCTGCT	0.612000													4	81					0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247492575	247492575	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:247492575C>T	ENST00000294753.4	-	3	770	c.306G>A	c.(304-306)gtG>gtA	p.V102V	ZNF496_ENST00000366498.2_Silent_p.V102V	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	102	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CCTGCGCCCGCACCCAGCTCT	0.677000													11	71					0	0	1	0	0
FAM86DP	692099	broad.mit.edu	37	3	75477009	75477009	+	RNA	SNP	A	A	G	rs112201406	by1000genomes	TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:75477009A>G	ENST00000459803.1	-	0	429					NR_024241.1																						CTGTGGTACCATGGGAGATGA	0.582000													3	39					0	0	1	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88938048	88938048	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:88938048T>C	ENST00000277141.6	-	14	2908	c.484A>G	c.(484-486)Atg>Gtg	p.M162V	ZCCHC6_ENST00000375963.3_Missense_Mutation_p.M873V|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.M873V|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.M750V			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	873					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TCATTAGCCATGCCATCTTCA	0.478000													9	108					0	0	1	0	0
OSGEPL1	64172	broad.mit.edu	37	2	190620067	190620067	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:190620067A>G	ENST00000519810.1	-	4	783	c.441T>C	c.(439-441)caT>caC	p.H147H	OSGEPL1_ENST00000264151.5_Silent_p.H147H|OSGEPL1_ENST00000522700.1_Silent_p.H147H			Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	147					proteolysis|tRNA processing		metalloendopeptidase activity			large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			GAGCCTCCATATGATGAATGG	0.393000													10	46					0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70078378	70078378	+	Silent	SNP	G	G	T	rs111436323		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:70078378G>T	ENST00000446444.1	-	2	791	c.783C>A	c.(781-783)tcC>tcA	p.S261S	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	261					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GAAAACTCCAGGAGTTTCGCA	0.398000													31	113					2.25844e-05	2.43917e-05	1	1	0
NCOR2	9612	broad.mit.edu	37	12	124856604	124856604	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:124856604T>C	ENST00000356219.3	-	21	2926	c.2771A>G	c.(2770-2772)gAc>gGc	p.D924G	NCOR2_ENST00000404621.1_Missense_Mutation_p.D906G|NCOR2_ENST00000404121.2_Missense_Mutation_p.D477G|NCOR2_ENST00000397355.1_Missense_Mutation_p.D907G|NCOR2_ENST00000429285.2_Missense_Mutation_p.D906G|NCOR2_ENST00000405201.1_Missense_Mutation_p.D924G	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	924					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		ATCCACCTCGTCTGCACTGCA	0.652000													10	54					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60193683	60193683	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:60193683T>C	ENST00000267484.5	-	3	2054	c.1719A>G	c.(1717-1719)ctA>ctG	p.L573L		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	573					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CGCCAGGACCTAGAGGCCCAG	0.592000													5	23					0	0	1	0	0
MMP25	64386	broad.mit.edu	37	16	3100390	3100390	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:3100390C>T	ENST00000336577.4	+	4	741	c.504C>T	c.(502-504)ccC>ccT	p.P168P	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	168					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						GCCAGGAGCCCGACATCCTCA	0.642000													12	63					0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50769313	50769313	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:50769313G>A	ENST00000216923.4	-	6	1767	c.1418C>T	c.(1417-1419)aCg>aTg	p.T473M	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.T471M|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000346617.4_Missense_Mutation_p.T419M|ZFP64_ENST00000477786.1_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AGTGAGGGGCGTGGCGGGCTG	0.602000													15	61					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61985392	61985392	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr13:61985392T>A	ENST00000409186.1	-	5	4945	c.2840A>T	c.(2839-2841)gAt>gTt	p.D947V	PCDH20_ENST00000409204.4_Missense_Mutation_p.D947V			Q8N6Y1	PCD20_HUMAN	protocadherin 20	920					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ATTAGAAATATCCATTGGCTT	0.363000													9	37					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55973701	55973701	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:55973701T>C	ENST00000373965.2	-	10	1487	c.1093A>G	c.(1093-1095)Att>Gtt	p.I365V	PCDH15_ENST00000361849.3_Missense_Mutation_p.I365V|PCDH15_ENST00000395440.1_Missense_Mutation_p.I365V|PCDH15_ENST00000320301.6_Missense_Mutation_p.I365V|PCDH15_ENST00000395430.1_Missense_Mutation_p.I365V|PCDH15_ENST00000414778.1_Missense_Mutation_p.I370V|PCDH15_ENST00000373955.1_Missense_Mutation_p.I365V|PCDH15_ENST00000395446.1_Missense_Mutation_p.I365V|PCDH15_ENST00000437009.1_Missense_Mutation_p.I365V|PCDH15_ENST00000395442.1_Missense_Mutation_p.I365V|PCDH15_ENST00000395438.1_Missense_Mutation_p.I365V|PCDH15_ENST00000395432.2_Missense_Mutation_p.I328V|PCDH15_ENST00000395433.1_Missense_Mutation_p.I343V|PCDH15_ENST00000395445.1_Missense_Mutation_p.I365V|PCDH15_ENST00000373957.3_Missense_Mutation_p.I343V|PCDH15_ENST00000409834.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	365	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTACCTTAATAACCAAATCA	0.348000										HNSCC(58;0.16)			7	32					0	0	1	0	0
EIF3H	8667	broad.mit.edu	37	8	117671063	117671063	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:117671063A>T	ENST00000521861.1	-	3	469	c.446T>A	c.(445-447)gTt>gAt	p.V149D	EIF3H_ENST00000276682.4_Missense_Mutation_p.V163D	NM_003756.2	NP_003747.1	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3, subunit H	149					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					ATAAATGAGAACGACAGATTC	0.413000													5	109					0	0	1	0	0
PIRT	644139	broad.mit.edu	37	17	10728646	10728646	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:10728646C>T	ENST00000580256.1	-	2	955	c.317G>A	c.(316-318)tGc>tAc	p.C106Y		NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of transient receptor potential channels	106						integral to membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						CACCAGCCCGCACACCAGCAT	0.527000													14	89					0	0	1	0	0
KLHL36	79786	broad.mit.edu	37	16	84691285	84691285	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:84691285G>A	ENST00000564996.1	+	3	1013	c.872G>A	c.(871-873)cGc>cAc	p.R291H	KLHL36_ENST00000258157.5_Missense_Mutation_p.R291H	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	291										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ACGGCGCTGCGCACCAACCAG	0.667000													12	34					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42586889	42586889	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:42586889G>A	ENST00000289957.2	+	5	567	c.439G>A	c.(439-441)Gcc>Acc	p.A147T		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	147					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GACCCCTCCCGCCAGCTACAA	0.527000													8	48					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44171961	44171961	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:44171961G>T	ENST00000262419.6	-	3	1866	c.1396C>A	c.(1396-1398)Caa>Aaa	p.Q466K	KANSL1_ENST00000432791.1_Missense_Mutation_p.Q466K|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Missense_Mutation_p.Q466K|KANSL1_ENST00000574590.1_Missense_Mutation_p.Q466K|KANSL1_ENST00000572904.1_Missense_Mutation_p.Q466K	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	466						MLL1 complex	protein binding										ATGTCTGTTTGCTGACGAATT	0.428000													15	88					1.05317e-09	1.20909e-09	1	1	0
CREBBP	1387	broad.mit.edu	37	16	3831292	3831292	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:3831292T>A	ENST00000262367.5	-	7	2398	c.1589A>T	c.(1588-1590)aAc>aTc	p.N530I	CREBBP_ENST00000382070.3_Missense_Mutation_p.N492I	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	530					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGCTGGAATGTTCATTGGATT	0.388000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						4	38					0	0	1	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611336	42611336	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:42611336T>C	ENST00000276410.2	-	5	1361	c.1006A>G	c.(1006-1008)Aca>Gca	p.T336A	CHRNA6_ENST00000534622.1_Missense_Mutation_p.T321A	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	336						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CTGGGCATTGTGTGCGTGGTT	0.552000													16	74					0	0	1	0	0
C17orf62	79415	broad.mit.edu	37	17	80401444	80401444	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:80401444A>G	ENST00000336995.7	-	6	1002	c.555T>C	c.(553-555)agT>agC	p.S185S	C17orf62_ENST00000342572.8_3'UTR|C17orf62_ENST00000583617.1_3'UTR|C17orf62_ENST00000306645.5_3'UTR|C17orf62_ENST00000437807.2_3'UTR|C17orf62_ENST00000434650.2_3'UTR			Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	0						integral to membrane	protein binding			breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CCGCCTCTCCACTCGCCCGAG	0.667000													3	3					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400555	89400555	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:89400555C>A	ENST00000439576.2	+	12	5113	c.4739C>A	c.(4738-4740)gCt>gAt	p.A1580D	ACAN_ENST00000561243.1_Missense_Mutation_p.A1580D|ACAN_ENST00000559004.1_Missense_Mutation_p.A1580D|ACAN_ENST00000352105.7_Missense_Mutation_p.A1580D	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1580					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGACTTCAGCTTCTGGAGCT	0.537000													11	97					0.000978159	0.00101669	1	1	0
PAPD7	11044	broad.mit.edu	37	5	6746462	6746462	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:6746462G>A	ENST00000230859.6	+	7	760	c.631G>A	c.(631-633)Gcc>Acc	p.A211T		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	211	PAP-associated.				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGCCTATATCGCCAAAGAGGA	0.463000													14	138					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124420007	124420007	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:124420007C>T	ENST00000409039.3	+	78	13420	c.13395C>T	c.(13393-13395)tgC>tgT	p.C4465C	CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4465					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGGAGTATGCCTCACCCTGA	0.498000													33	130					0	0	1	0	0
TIGD3	220359	broad.mit.edu	37	11	65123449	65123449	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:65123449C>T	ENST00000309880.5	+	2	377	c.170C>T	c.(169-171)gCg>gTg	p.A57V		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	57					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						AAGCTGCTGGCGGACTGGTGC	0.622000													15	120					0	0	1	0	0
FTSJ1	24140	broad.mit.edu	37	X	48339835	48339835	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:48339835A>G	ENST00000019019.2	+	9	919	c.490A>G	c.(490-492)Acg>Gcg	p.T164A	FTSJ1_ENST00000348411.2_Missense_Mutation_p.T164A|FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000456787.1_Missense_Mutation_p.T164A|FTSJ1_ENST00000396894.4_Missense_Mutation_p.T27A	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN	FtsJ RNA methyltransferase homolog 1 (E. coli)	164					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						CCGGGATGTGACGCTCCTCTA	0.617000													7	26					0	0	1	0	0
STK11	6794	broad.mit.edu	37	19	1223131	1223131	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:1223131C>T	ENST00000326873.7	+	8	2241	c.1068C>T	c.(1066-1068)atC>atT	p.I356I		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	356					anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTTCGACATCGAGGATGACA	0.657000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			6	15					0	0	1	0	0
PRICKLE4	29964	broad.mit.edu	37	6	41753998	41753998	+	Missense_Mutation	SNP	A	A	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:41753998A>C	ENST00000359201.5	+	6	1304	c.715A>C	c.(715-717)Agc>Cgc	p.S239R	PRICKLE4_ENST00000458694.1_Missense_Mutation_p.S239R|PRICKLE4_ENST00000394259.1_Missense_Mutation_p.S199R|PRICKLE4_ENST00000394260.1_Missense_Mutation_p.S199R|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.S239R			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	199						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGCTGCCCCAGCTGCTTCGA	0.662000													10	36					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534502	92534502	+	Missense_Mutation	SNP	A	A	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:92534502A>C	ENST00000298047.6	+	9	8340	c.8323A>C	c.(8323-8325)Acc>Ccc	p.T2775P	FAT3_ENST00000525166.1_Missense_Mutation_p.T2625P|FAT3_ENST00000409404.2_Missense_Mutation_p.T2775P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2775	Cadherin 25.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGACCGTGAAACCAGCCCAGC	0.433000										TCGA Ovarian(4;0.039)			10	43					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135738405	135738405	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:135738405G>A	ENST00000375845.3	-	9	3936	c.3906C>T	c.(3904-3906)cgC>cgT	p.R1302R	MAP3K19_ENST00000392917.3_Silent_p.R434R|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000358371.4_Silent_p.R1189R|MAP3K19_ENST00000392918.3_Silent_p.R436R|MAP3K19_ENST00000375844.3_Silent_p.R484R|MAP3K19_ENST00000315513.3_Silent_p.R163R	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		TCAGGCACATGCGCACAAAGT	0.493000													4	37					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166980	19166980	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:19166980A>G	ENST00000375371.3	-	6	1654	c.1633T>C	c.(1633-1635)Tac>Cac	p.Y545H		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	545					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TCACTCTGGTAGGACCACTCG	0.587000													5	59					0	0	1	0	0
COX10	1352	broad.mit.edu	37	17	13980264	13980264	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:13980264A>G	ENST00000261643.3	+	3	467	c.390A>G	c.(388-390)tcA>tcG	p.S130S	COX10_ENST00000429152.2_Silent_p.S130S|COX10_ENST00000537334.1_Intron|COX10_ENST00000536205.1_5'UTR	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	130					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TTGAAGACTCAATAGATGTAG	0.423000													11	73					0	0	1	0	0
CRX	1406	broad.mit.edu	37	19	48342973	48342973	+	Missense_Mutation	SNP	G	G	A	rs61748457		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:48342973G>A	ENST00000221996.7	+	4	855	c.649G>A	c.(649-651)Ggc>Agc	p.G217S	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.G217S	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	217					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CTATTTCAGCGGCCTAGACCC	0.677000													35	169					0	0	1	0	0
METTL13	51603	broad.mit.edu	37	1	171765812	171765812	+	Missense_Mutation	SNP	G	G	T	rs149043143		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:171765812G>T	ENST00000361735.3	+	8	2282	c.2016G>T	c.(2014-2016)ttG>ttT	p.L672F	METTL13_ENST00000362019.3_Missense_Mutation_p.L586F|METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000458517.1_Missense_Mutation_p.L671F|METTL13_ENST00000367737.5_Missense_Mutation_p.L516F	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	672							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						CCCAGGCTTTGGAGCGGACCC	0.527000													28	180					7.38237e-10	8.49188e-10	1	1	0
C7	730	broad.mit.edu	37	5	40950050	40950050	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:40950050C>T	ENST00000313164.9	+	9	1386	c.1027C>T	c.(1027-1029)Cat>Tat	p.H343Y		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	343	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CTCAGGTTGGCATTTTGTCGT	0.353000													4	11					0	0	1	0	0
DPF2	5977	broad.mit.edu	37	11	65113491	65113491	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:65113491C>T	ENST00000528416.1	+	8	999	c.866C>T	c.(865-867)cCc>cTc	p.P289L	DPF2_ENST00000252268.4_Missense_Mutation_p.P303L|DPF2_ENST00000415073.2_Intron|DPF2_ENST00000532264.1_3'UTR	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	289					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						ACGGGACAACCCGAGGAGCTG	0.567000													9	123					0	0	1	0	0
TAF1A	9015	broad.mit.edu	37	1	222753124	222753124	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:222753124T>C	ENST00000350027.4	-	4	535	c.382A>G	c.(382-384)Att>Gtt	p.I128V	TAF1A_ENST00000391882.1_Missense_Mutation_p.I14V|TAF1A_ENST00000543857.1_Missense_Mutation_p.I128V|TAF1A_ENST00000352967.4_Missense_Mutation_p.I128V|TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000366890.1_Missense_Mutation_p.I14V	NM_001201536.1	NP_001188465.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	128					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		ATGACGCCAATATTTTTCATC	0.333000													26	138					0	0	1	0	0
TTLL13	440307	broad.mit.edu	37	15	90801385	90801385	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:90801385C>T	ENST00000438251.1	+	9	1341	c.1051C>T	c.(1051-1053)Cgc>Tgc	p.R351C	TTLL13_ENST00000339615.5_Missense_Mutation_p.R351C|RP11-697E2.6_ENST00000561573.1_Intron			A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	351	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			TTCTGTTCTACGCCACAACTA	0.483000													22	193					0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47884519	47884519	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:47884519C>T	ENST00000328771.4	+	16	3585	c.3236C>T	c.(3235-3237)aCg>aTg	p.T1079M		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	1079						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GCGCCCCTCACGCCCCTGGAG	0.672000													18	71					0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48156231	48156231	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:48156231G>T	ENST00000320031.8	+	19	2671	c.2341G>T	c.(2341-2343)Ggt>Tgt	p.G781C	ITGA3_ENST00000007722.7_Missense_Mutation_p.G781C	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	781					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GACAGTGATGGGTGAGTCTGG	0.562000													21	96					1.62716e-29	1.98813e-29	1	1	0
ABCA6	23460	broad.mit.edu	37	17	67136823	67136823	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:67136823C>T	ENST00000284425.2	-	2	196	c.22G>A	c.(22-24)Gtg>Atg	p.V8M	ABCA6_ENST00000590645.1_Missense_Mutation_p.V8M	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	8					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TGCTGATACACGCTTTTCTGT	0.338000													5	62					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810472	106810472	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:106810472T>A	ENST00000526355.1	-	4	1388	c.920A>T	c.(919-921)cAg>cTg	p.Q307L	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.Q307L|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.Q307L	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	307					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GGAGGTTCCCTGTGGAAGGTT	0.433000													16	57					0	0	1	0	0
CTDP1	9150	broad.mit.edu	37	18	77473100	77473100	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:77473100C>T	ENST00000299543.7	+	7	1139	c.992C>T	c.(991-993)gCg>gTg	p.A331V	CTDP1_ENST00000075430.7_Missense_Mutation_p.A331V	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	331	FCP1 homology.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GATATGAATGCGCCCCCTGGG	0.438000													11	46					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189871172	189871172	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:189871172A>G	ENST00000304636.3	+	43	3365	c.3195A>G	c.(3193-3195)ggA>ggG	p.G1065G	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1065	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GTGACAGAGGAGAAAGTGTGA	0.502000													7	36					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23702675	23702675	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:23702675G>A	ENST00000256797.4	-	20	2760	c.2592C>T	c.(2590-2592)tgC>tgT	p.C864C	ERN2_ENST00000457008.2_Silent_p.C764C	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	816	KEN.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GGACCACTGCGCAGCCTCCCG	0.667000													11	33					0	0	1	0	0
GPR4	2828	broad.mit.edu	37	19	46094048	46094048	+	Silent	SNP	C	C	T	rs139283755	byFrequency	TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:46094048C>T	ENST00000323040.4	-	2	2021	c.1077G>A	c.(1075-1077)ccG>ccA	p.P359P	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	359						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		ATTGTGCTGGCGGCAGCATCT	0.582000													12	38					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145006692	145006692	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:145006692A>G	ENST00000322810.4	-	16	2433	c.2264T>C	c.(2263-2265)tTg>tCg	p.L755S	PLEC_ENST00000357649.2_Missense_Mutation_p.L622S|PLEC_ENST00000436759.2_Missense_Mutation_p.L645S|PLEC_ENST00000356346.3_Missense_Mutation_p.L604S|PLEC_ENST00000345136.3_Missense_Mutation_p.L618S|PLEC_ENST00000354589.3_Missense_Mutation_p.L618S|PLEC_ENST00000398774.2_Missense_Mutation_p.L586S|PLEC_ENST00000354958.2_Missense_Mutation_p.L596S|PLEC_ENST00000527096.1_Missense_Mutation_p.L641S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	755	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AAAGCTGTGCAAGCTCTCCAG	0.647000													12	74					0	0	1	0	0
ACSL1	2180	broad.mit.edu	37	4	185683580	185683580	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:185683580T>C	ENST00000515030.1	-	17	1944	c.1619A>G	c.(1618-1620)gAc>gGc	p.D540G	ACSL1_ENST00000504342.1_Missense_Mutation_p.D540G|ACSL1_ENST00000513317.1_Missense_Mutation_p.D540G|ACSL1_ENST00000454703.2_Missense_Mutation_p.D369G|ACSL1_ENST00000437665.3_Missense_Mutation_p.D369G|ACSL1_ENST00000507295.1_Missense_Mutation_p.D506G|ACSL1_ENST00000281455.2_Missense_Mutation_p.D540G			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	540					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TTTTCCAATGTCCCCTGTGTG	0.483000													18	70					0	0	1	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99104018	99104018	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:99104018T>C	ENST00000394170.2	+	2	602	c.351T>C	c.(349-351)agT>agC	p.S117S	ZKSCAN5_ENST00000326775.5_Silent_p.S117S|ZKSCAN5_ENST00000451158.1_Silent_p.S117S	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	117	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ACCCTGAAAGTGGAGAAGAGG	0.527000													9	110					0	0	1	0	0
RING1	6015	broad.mit.edu	37	6	33179100	33179100	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:33179100C>T	ENST00000374656.4	+	5	829	c.621C>T	c.(619-621)ggC>ggT	p.G207G	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	207	Gly-rich.|Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GTGGAGGGGGCGCAGGGGGGA	0.701000													12	51					0	0	1	0	0
DYRK1A	1859	broad.mit.edu	37	21	38884219	38884219	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr21:38884219T>C	ENST00000398956.2	+	10	1552	c.1552T>C	c.(1552-1554)Tca>Cca	p.S518P	DYRK1A_ENST00000455387.2_Silent_p.R331R|DYRK1A_ENST00000339659.3_Silent_p.R550R|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000398960.2_Silent_p.R559R			Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	518					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TTCAGGTGCGTCAGCAATTTC	0.418000													9	65					0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130488631	130488631	+	Missense_Mutation	SNP	G	G	C	rs146364931	byFrequency	TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:130488631G>C	ENST00000373289.3	+	10	1453	c.1373G>C	c.(1372-1374)gGg>gCg	p.G458A	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	458							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						AACATTTTTGGGGCCCGCCAG	0.617000													4	52					0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2775219	2775219	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:2775219T>C	ENST00000380605.2	-	13	1991	c.1927A>G	c.(1927-1929)Att>Gtt	p.I643V		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	643					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCCACGGCAATGACAGCGTCA	0.597000													7	90					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112676373	112676373	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:112676373A>G	ENST00000408903.3	-	3	885	c.470T>C	c.(469-471)cTc>cCc	p.L157P	CTD-2201G3.1_ENST00000416046.2_RNA	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CGGGCTCTGGAGGTCCCTGGC	0.542000													5	46					0	0	1	0	0
RSBN1	54665	broad.mit.edu	37	1	114354781	114354781	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:114354781A>G	ENST00000261441.5	-	1	317	c.254T>C	c.(253-255)gTt>gCt	p.V85A		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	85						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCCGTTTAACTCCCCGCGG	0.711000													17	52					0	0	1	0	0
USP21	27005	broad.mit.edu	37	1	161134896	161134896	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:161134896C>T	ENST00000368002.3	+	13	1947	c.1570C>T	c.(1570-1572)Cgg>Tgg	p.R524W	USP21_ENST00000487163.1_3'UTR|USP21_ENST00000368001.1_Missense_Mutation_p.R510W|USP21_ENST00000289865.8_Missense_Mutation_p.R524W	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	524					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGCCCTGTGCCGGTGCCAGAC	0.557000													5	111					0	0	1	0	0
HDAC3	8841	broad.mit.edu	37	5	141014505	141014505	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:141014505G>A	ENST00000305264.3	-	3	233	c.154C>T	c.(154-156)Cag>Tag	p.Q52*		NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	52	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	TGGGAGGCCTGGTATGGCTTG	0.562000													9	94					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78319600	78319600	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:78319600G>A	ENST00000582970.1	+	29	7608	c.7465G>A	c.(7465-7467)Gcc>Acc	p.A2489T	RNF213_ENST00000508628.2_Missense_Mutation_p.A2538T|RNF213_ENST00000336301.6_Missense_Mutation_p.A562T	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTTTGATGAAGCCAACACAAC	0.473000													17	115					0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43922442	43922442	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:43922442C>T	ENST00000537548.1	-	11	1955	c.1711G>A	c.(1711-1713)Gag>Aag	p.E571K	MATN4_ENST00000372753.1_Missense_Mutation_p.E422K|MATN4_ENST00000353917.5_Missense_Mutation_p.E489K|MATN4_ENST00000372756.1_Missense_Mutation_p.E571K|MATN4_ENST00000372754.1_Missense_Mutation_p.E612K|MATN4_ENST00000360607.5_Missense_Mutation_p.E530K|MATN4_ENST00000372751.4_Missense_Mutation_p.E422K|MATN4_ENST00000342716.4_Missense_Mutation_p.E571K			O95460	MATN4_HUMAN	matrilin 4	612						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TCCAGATCCTCCAGGCGCGCC	0.701000													11	27					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87967553	87967553	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:87967553A>G	ENST00000369577.3	+	8	4249	c.4206A>G	c.(4204-4206)ccA>ccG	p.P1402P	ZNF292_ENST00000339907.4_Silent_p.P1397P	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ACTGTAAACCACTGGATGGAG	0.438000													29	100					0	0	1	0	0
FAM166A	401565	broad.mit.edu	37	9	140138202	140138202	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:140138202T>C	ENST00000344774.4	-	7	958	c.904A>G	c.(904-906)Acc>Gcc	p.T302A		NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	302										kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						GCCCTCCGGGTGCTGTTGCCG	0.567000													25	174					0	0	1	0	0
LRRC56	115399	broad.mit.edu	37	11	552668	552668	+	Silent	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:552668C>A	ENST00000270115.7	+	13	1781	c.1281C>A	c.(1279-1281)ccC>ccA	p.P427P		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	427										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGCAGAGCCCAAGACTCCCT	0.682000													4	26					1	1	1	1	0
MROH5	389690	broad.mit.edu	37	8	142446139	142446139	+	RNA	SNP	C	C	T	rs141065384	by1000genomes	TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:142446139C>T	ENST00000606664.1	+	0	1495				MROH5_ENST00000430863.1_RNA																							CGAACAGTGCCATGGCTGCCG	0.677000													3	39					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40363172	40363172	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:40363172G>A	ENST00000221347.6	-	32	14905	c.14898C>T	c.(14896-14898)ggC>ggT	p.G4966G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4966	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGTGGGCATCGCCATCAAAGA	0.637000													12	39					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711378	155711378	+	Silent	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:155711378C>A	ENST00000295101.2	+	3	1536	c.1059C>A	c.(1057-1059)acC>acA	p.T353T	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	353					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AAGTCCCCACCCCACCTTACA	0.418000													22	90					2.37509e-13	2.81445e-13	1	1	0
HIST1H1B	3009	broad.mit.edu	37	6	27834894	27834894	+	Silent	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:27834894C>A	ENST00000331442.3	-	1	465	c.414G>T	c.(412-414)acG>acT	p.T138T		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	138					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CCTTCTTAGGCGTGGCCCCCG	0.607000													48	177					7.77372e-23	9.45901e-23	1	1	0
HCRTR2	3062	broad.mit.edu	37	6	55145180	55145180	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:55145180T>C	ENST00000370862.3	+	6	1379	c.1043T>C	c.(1042-1044)tTt>tCt	p.F348S		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	348					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGGTTTACCTTTTCACACTGG	0.368000													19	85					0	0	1	0	0
HPR	3250	broad.mit.edu	37	16	72110413	72110413	+	Silent	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:72110413C>A	ENST00000540303.2	+	5	512	c.480C>A	c.(478-480)gcC>gcA	p.A160A	HPR_ENST00000356967.5_Silent_p.A160A|HPR_ENST00000561690.1_Intron|HPR_ENST00000228226.8_Silent_p.A197A	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	160	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				AAGACATTGCCCCTACTTTAA	0.463000													25	52					7.92952e-12	9.29668e-12	1	1	0
BMPR2	659	broad.mit.edu	37	2	203384882	203384882	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:203384882A>G	ENST00000374580.4	+	7	1464	c.925A>G	c.(925-927)Act>Gct	p.T309A	BMPR2_ENST00000374574.2_Missense_Mutation_p.T309A	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	309	Protein kinase.				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TCATTCTGTTACTAGAGGACT	0.388000													3	30					0	0	1	0	0
TIGD2	166815	broad.mit.edu	37	4	90034803	90034803	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:90034803T>C	ENST00000317005.2	+	1	836	c.678T>C	c.(676-678)tgT>tgC	p.C226C		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	226	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TTAATCTTTGTGTTGTGGGGA	0.428000													16	85					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138373784	138373784	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:138373784C>A	ENST00000409968.1	+	18	3641	c.3463C>A	c.(3463-3465)Ctg>Atg	p.L1155M	THSD7B_ENST00000272643.3_Missense_Mutation_p.L1158M|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.L1127M					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AACTCGCCACCTGCTAAGACC	0.423000													24	121					1.42536e-11	1.66448e-11	1	1	0
SLC9C1	285335	broad.mit.edu	37	3	111923077	111923077	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:111923077T>C	ENST00000305815.5	-	17	2412	c.2160A>G	c.(2158-2160)ctA>ctG	p.L720L	SLC9C1_ENST00000487372.1_Silent_p.L672L	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	720					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TGAAAATGCGTAGTATACGAA	0.259000													18	58					0	0	1	0	0
FGF3	2248	broad.mit.edu	37	11	69625400	69625400	+	Silent	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:69625400G>T	ENST00000334134.2	-	3	483	c.393C>A	c.(391-393)tcC>tcA	p.S131S		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	131					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			GGTACAGCCGGGAGGCATACG	0.647000													6	66					5.18039e-06	5.63974e-06	1	1	0
COL24A1	255631	broad.mit.edu	37	1	86591055	86591055	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:86591055C>T	ENST00000370571.2	-	3	1330	c.964G>A	c.(964-966)Gtc>Atc	p.V322I	COL24A1_ENST00000436319.1_Missense_Mutation_p.V322I	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	322					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ACAGCAGAGACATTTCCTGAC	0.393000													7	102					0	0	1	0	0
ELMO3	79767	broad.mit.edu	37	16	67236431	67236431	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:67236431G>A	ENST00000393997.2	+	14	1609	c.1552G>A	c.(1552-1554)Gac>Aac	p.D518N	ELMO3_ENST00000477898.1_Missense_Mutation_p.D352N|ELMO3_ENST00000360833.1_Missense_Mutation_p.D501N	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	465					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GGAGGACTTCGACAAGGTGGG	0.622000													24	90					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48699025	48699025	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:48699025A>G	ENST00000544264.1	-	1	1323	c.1043T>C	c.(1042-1044)gTt>gCt	p.V348A	CELSR3_ENST00000164024.4_Missense_Mutation_p.V348A			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	348	Cadherin 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCCTGAGCAACCACGCGTAG	0.667000													10	71					0	0	1	0	0
MRPL16	54948	broad.mit.edu	37	11	59574080	59574080	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:59574080G>A	ENST00000300151.4	-	4	709	c.496C>T	c.(496-498)Cgt>Tgt	p.R166C		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	166							rRNA binding			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						AATTCACAACGCCCACCCATC	0.552000													25	83					0	0	1	0	0
IDE	3416	broad.mit.edu	37	10	94297256	94297256	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:94297256T>C	ENST00000265986.6	-	2	206	c.150A>G	c.(148-150)atA>atG	p.I50M		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	50					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGTGATTTCCTATTCTCTTGA	0.368000													24	66					0	0	1	0	0
PLAC8L1	153770	broad.mit.edu	37	5	145464071	145464071	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:145464071G>A	ENST00000311450.4	-	4	515	c.458C>T	c.(457-459)gCc>gTc	p.A153V		NM_001029869.1	NP_001025040.1	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	153										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGTTCCCGGGCCACCTGGCA	0.522000													13	107					0	0	1	0	0
KCNE4	23704	broad.mit.edu	37	2	223918043	223918043	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:223918043C>T	ENST00000281830.3	+	2	979	c.648C>T	c.(646-648)aaC>aaT	p.N216N	KCNE4_ENST00000488477.2_Intron|KCNE4_ENST00000604125.1_Silent_p.N165N			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	165						integral to membrane	voltage-gated potassium channel activity			large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCTCGGAGAACATCCATCAGA	0.592000													4	31					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51799086	51799086	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:51799086G>A	ENST00000371117.3	-	37	6218	c.5943C>T	c.(5941-5943)atC>atT	p.I1981I	PKHD1_ENST00000340994.4_Silent_p.I1981I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1981	G8 1.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCCTGAGCTCGATGGGTCCTG	0.522000											OREG0017491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	73					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125900162	125900162	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:125900162G>T	ENST00000299308.3	+	3	1038	c.1030G>T	c.(1030-1032)Ggc>Tgc	p.G344C		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	344						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AATTGATAATGGCAGCACTCA	0.587000													17	71					2.48551e-13	2.94332e-13	1	1	0
PCDHA2	56146	broad.mit.edu	37	5	140176254	140176254	+	Silent	SNP	A	A	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:140176254A>C	ENST00000526136.1	+	1	1705	c.1705A>C	c.(1705-1707)Agg>Cgg	p.R569R	PCDHA2_ENST00000378132.1_Silent_p.R569R|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.R569R	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGGCGCCTAGGGCTGGCAC	0.701000													8	95					0	0	1	0	0
CSNK1A1	1452	broad.mit.edu	37	5	148886635	148886635	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:148886635G>A	ENST00000261798.5	-	8	1244	c.812C>T	c.(811-813)gCc>gTc	p.A271V	CSNK1A1_ENST00000515768.1_Missense_Mutation_p.A299V|CSNK1A1_ENST00000504676.1_Missense_Mutation_p.A182V|CSNK1A1_ENST00000377843.2_Missense_Mutation_p.A271V|CSNK1A1_ENST00000606299.1_Missense_Mutation_p.A31V|CSNK1A1_ENST00000515435.1_Missense_Mutation_p.A210V|CSNK1A1_ENST00000606719.1_Missense_Mutation_p.A68V	NM_001271741.1	NP_001258670.1	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	271	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GTAATCTGGGGCTTCCTCAAA	0.373000													7	34					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65955973	65955973	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:65955973C>T	ENST00000321892.4	+	26	8682	c.8621C>T	c.(8620-8622)aCg>aTg	p.T2874M	BPTF_ENST00000424123.3_Missense_Mutation_p.T2592M|BPTF_ENST00000335221.5_Missense_Mutation_p.T2731M|BPTF_ENST00000306378.6_Missense_Mutation_p.T2748M			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2874					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATCTGTAAAACGCCTTATGAT	0.323000													4	57					0	0	1	0	0
PPP1R3C	5507	broad.mit.edu	37	10	93389938	93389938	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:93389938A>G	ENST00000238994.5	-	2	784	c.700T>C	c.(700-702)Ttc>Ctc	p.F234L		NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory subunit 3C	234	CBM21.|Interaction with EPM2A.						protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				GAAATGCAGAACTCAATTTTC	0.408000													28	80					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588540	247588540	+	Missense_Mutation	SNP	A	A	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:247588540A>C	ENST00000366497.2	+	4	2575	c.1795A>C	c.(1795-1797)Aag>Cag	p.K599Q	NLRP3_ENST00000336119.3_Missense_Mutation_p.K599Q|NLRP3_ENST00000348069.2_Missense_Mutation_p.K599Q|NLRP3_ENST00000391827.2_Missense_Mutation_p.K599Q|NLRP3_ENST00000391828.3_Missense_Mutation_p.K599Q|NLRP3_ENST00000366496.2_Missense_Mutation_p.K599Q|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	599				K -> M (in Ref. 9).	detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ATTAAGTTGCAAGATCTCTCA	0.443000													7	80					0	0	1	0	0
TUBB8	347688	broad.mit.edu	37	10	93918	93918	+	Silent	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:93918G>T	ENST00000447903.2	-	4	513	c.198C>A	c.(196-198)tcC>tcA	p.S66S	TUBB8_ENST00000309812.4_Silent_p.S138S|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	138					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CCCCACCCAGGGAGTGGGTCA	0.577000													6	137					0.000157383	0.000166221	1	1	0
FAM124B	79843	broad.mit.edu	37	2	225265821	225265821	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:225265821G>T	ENST00000389874.3	-	1	890	c.665C>A	c.(664-666)cCa>cAa	p.P222Q	FAM124B_ENST00000243806.2_Missense_Mutation_p.P222Q|FAM124B_ENST00000409685.3_Missense_Mutation_p.P222Q	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	222							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		AGGCATGCATGGATTGGGTAG	0.517000													12	74					6.40141e-05	6.84262e-05	1	1	0
LOC100130331	100130331	broad.mit.edu	37	1	238090894	238090894	+	RNA	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:238090894C>A	ENST00000450451.1	+	0	2400					NR_027247.2																						CGGCAATAAGCCATCCCGGTG	0.507000													5	15					3.59834e-05	3.86504e-05	1	1	0
PSG11	5680	broad.mit.edu	37	19	43528955	43528955	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:43528955G>A	ENST00000401740.1	-	2	421	c.318C>T	c.(316-318)tcC>tcT	p.S106S	PSG11_ENST00000320078.7_Silent_p.S106S|PSG11_ENST00000403486.1_Intron|PSG11_ENST00000306322.7_Intron			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	106	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GGATCAGCAGGGATGCATTGG	0.448000													78	127					0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25916990	25916990	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:25916990G>T	ENST00000377850.3	-	8	1377	c.853C>A	c.(853-855)Cat>Aat	p.H285N	SLC17A2_ENST00000265425.3_Missense_Mutation_p.H285N|SLC17A2_ENST00000360488.3_Missense_Mutation_p.H285N			O00624	NPT3_HUMAN	solute carrier family 17, member 2	285					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AACCAGAAATGGCTGAAAAAA	0.448000													17	77					2.23348e-06	2.44508e-06	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228464714	228464714	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:228464714C>G	ENST00000570156.2	+	27	7770	c.7696C>G	c.(7696-7698)Cgt>Ggt	p.R2566G	OBSCN_ENST00000284548.11_Missense_Mutation_p.R2191G|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1038G|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.R2191G	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1560	Ig-like 25.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGAGCTGTCGCGTCCTAATGT	0.647000													3	8					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7409851	7409851	+	Splice_Site	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:7409851C>A	ENST00000361972.4	-	4	286	c.195_splice	c.e4-1	p.V66_splice	SFMBT2_ENST00000397160.3_Splice_Site_p.V66_splice|SFMBT2_ENST00000379711.2_Splice_Site_p.V66_splice|SFMBT2_ENST00000397167.1_Splice_Site_p.V66_splice|SFMBT2_ENST00000379713.3_Splice_Site_p.V66_splice	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	66					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CTGATTTCAACCTTAAGGAAT	0.398000													14	31					0.00400662	0.00413527	1	1	0
AQP7	364	broad.mit.edu	37	9	33385689	33385689	+	Missense_Mutation	SNP	C	C	G	rs3215969		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:33385689C>G	ENST00000537089.1	-	6	743	c.425G>C	c.(424-426)cGc>cCc	p.R142P	AQP7_ENST00000541274.1_Silent_p.P102P|AQP7_ENST00000377425.4_Missense_Mutation_p.R177P|AQP7_ENST00000539936.1_Missense_Mutation_p.R234P			O14520	AQP7_HUMAN	aquaporin 7	234					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	p.R234fs*35(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GGTGAAGATGCGGGGGGGCAG	0.582000													17	103					0	0	1	0	0
ECM1	1893	broad.mit.edu	37	1	150485940	150485940	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:150485940A>G	ENST00000369047.4	+	10	1745	c.1620A>G	c.(1618-1620)gaA>gaG	p.E540E	ECM1_ENST00000369049.4_Silent_p.E567E|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Silent_p.E415E	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	540					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCAAGGAAGAATGAGTCACCC	0.562000													12	31					0	0	1	0	0
C17orf62	79415	broad.mit.edu	37	17	80402374	80402374	+	Missense_Mutation	SNP	G	G	A	rs145403707	byFrequency	TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:80402374G>A	ENST00000437807.2	-	7	709	c.392C>T	c.(391-393)gCg>gTg	p.A131V	C17orf62_ENST00000342572.8_Missense_Mutation_p.A7V|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000583617.1_Missense_Mutation_p.A131V|C17orf62_ENST00000306645.5_Missense_Mutation_p.A131V|C17orf62_ENST00000585080.1_Missense_Mutation_p.A131V|C17orf62_ENST00000578913.1_Missense_Mutation_p.A131V|C17orf62_ENST00000577732.1_Missense_Mutation_p.A131V|C17orf62_ENST00000578919.1_Missense_Mutation_p.A131V|C17orf62_ENST00000577436.1_Missense_Mutation_p.A117V|C17orf62_ENST00000434650.2_Missense_Mutation_p.A117V|C17orf62_ENST00000585064.1_Missense_Mutation_p.A131V	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	131						integral to membrane	protein binding	p.A131V(1)		breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GAAGCCCGTCGCAAGCCGGAG	0.632000													16	67					0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60637441	60637441	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:60637441G>A	ENST00000582809.1	+	11	1041	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	TLK2_ENST00000542523.1_Missense_Mutation_p.R230Q|TLK2_ENST00000343388.7_Missense_Mutation_p.R230Q|TLK2_ENST00000326270.9_Missense_Mutation_p.R262Q|TLK2_ENST00000346027.5_Missense_Mutation_p.R262Q			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	262					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.R262Q(17)|p.R261Q(9)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TACAAGGAACGATTAAATAGA	0.358000													5	60					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19704415	19704415	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr21:19704415G>T	ENST00000284885.3	-	14	1673	c.1640C>A	c.(1639-1641)cCt>cAt	p.P547H		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	547	CUB 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AGCCAGATTAGGGTAGCTGTT	0.418000													14	62					0.000308642	0.000323653	1	1	0
CARD18	59082	broad.mit.edu	37	11	105009699	105009699	+	Translation_Start_Site	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:105009699T>A	ENST00000526823.1	-	0	310				CARD18_ENST00000530950.1_Missense_Mutation_p.E38D|CARD18_ENST00000532895.1_De_novo_Start_OutOfFrame			P57730	CAR18_HUMAN	caspase recruitment domain family, member 18						inflammatory response|regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity			central_nervous_system(1)|ovary(1)	2						TGTTCATGTCTTCCTGGCTAA	0.408000													31	100					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103055673	103055673	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:103055673T>C	ENST00000375735.2	+	41	6670	c.6526T>C	c.(6526-6528)Ttg>Ctg	p.L2176L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.L2176L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2176					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GATGAATGGTTTGTCACATCT	0.368000													8	64					0	0	1	0	0
FLII	2314	broad.mit.edu	37	17	18155796	18155796	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:18155796G>A	ENST00000327031.4	-	10	1313	c.1088C>T	c.(1087-1089)aCg>aTg	p.T363M	FLII_ENST00000579294.1_Missense_Mutation_p.T352M|FLII_ENST00000578558.1_Missense_Mutation_p.T363M|FLII_ENST00000545457.2_Missense_Mutation_p.T309M|FLII_ENST00000379450.4_Missense_Mutation_p.T278M	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	363	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CTCGATCTCCGTCAGGAAATG	0.602000													13	58					0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107391638	107391638	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:107391638G>A	ENST00000429433.2	-	5	1406	c.757C>T	c.(757-759)Ctc>Ttc	p.L253F	BEND3_ENST00000369042.1_Missense_Mutation_p.L253F	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	253	BEN 1.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						ATCTGCTTGAGCTCTGCGGCT	0.637000													8	34					0	0	1	0	0
RTP3	83597	broad.mit.edu	37	3	46539614	46539614	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:46539614C>T	ENST00000296142.3	+	1	634	c.62C>T	c.(61-63)cCa>cTa	p.P21L		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	21					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		GAGGTGAAGCCATGGCACAGG	0.587000													16	50					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32949103	32949103	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:32949103G>A	ENST00000340811.4	-	11	2405	c.2297C>T	c.(2296-2298)gCa>gTa	p.A766V	PKP2_ENST00000070846.6_Missense_Mutation_p.A810V	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	810					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AAGGTCGCGTGCATTCTGGTA	0.488000													9	75					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068532	103068532	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:103068532C>A	ENST00000264260.2	+	12	2280	c.1691C>A	c.(1690-1692)tCt>tAt	p.S564Y	IL18RAP_ENST00000409369.1_Missense_Mutation_p.S422Y	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	564					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GTGAAAAACTCTCAGGGATTC	0.483000													19	215					0.000175454	0.000185196	1	1	0
FOLR3	2352	broad.mit.edu	37	11	71847078	71847078	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:71847078C>T	ENST00000445078.2	+	2	145	c.74C>T	c.(73-75)gCg>gTg	p.A25V	FOLR3_ENST00000442948.2_Missense_Mutation_p.A27V|FOLR3_ENST00000456237.1_Missense_Mutation_p.A27V			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	25					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	CCCAGGAGTGCGCGGGCCAGG	0.632000													31	137					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41385056	41385056	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr21:41385056C>A	ENST00000400454.1	-	33	6421	c.5944G>T	c.(5944-5946)Gca>Tca	p.A1982S		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1982				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATTTTAGCTGCCTGTCCCAGC	0.582000													9	32					5.4927e-09	6.25715e-09	1	1	0
ACE	1636	broad.mit.edu	37	17	61557841	61557841	+	Missense_Mutation	SNP	G	G	A	rs149412997	byFrequency	TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:61557841G>A	ENST00000290866.4	+	5	823	c.799G>A	c.(799-801)Gga>Aga	p.G267R	ACE_ENST00000538928.1_Missense_Mutation_p.G267R|ACE_ENST00000428043.1_Missense_Mutation_p.G267R|ACE_ENST00000584529.1_3'UTR	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	267	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TCGCCGATACGGAGACAGATA	0.607000													8	89					0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67319111	67319111	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:67319111C>A	ENST00000360461.5	+	12	4723	c.2188C>A	c.(2188-2190)Ctc>Atc	p.L730I	PLEKHG4_ENST00000427155.2_Missense_Mutation_p.L730I|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.L730I|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.L649I	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	730					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CCCCAGGAGCCTCAACAGGTA	0.637000													4	59					4.096e-09	4.68114e-09	1	1	0
URI1	8725	broad.mit.edu	37	19	30505875	30505875	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:30505875C>T	ENST00000392271.1	+	11	1804	c.1279C>T	c.(1279-1281)Ccc>Tcc	p.P427S	URI1_ENST00000312051.6_Missense_Mutation_p.P463S|URI1_ENST00000360605.4_Intron|URI1_ENST00000542441.2_Missense_Mutation_p.P503S	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	503					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding										TCCCGCACTACCCACTATTCC	0.418000													33	128					0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47987485	47987485	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr21:47987485G>A	ENST00000318711.7	+	38	4852	c.4669G>A	c.(4669-4671)Ggc>Agc	p.G1557S	DIP2A_ENST00000479654.1_3'UTR|DIP2A_ENST00000417564.2_Missense_Mutation_p.G1556S|DIP2A_ENST00000400274.1_Missense_Mutation_p.G1552S	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1556					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCTGCGGGACGGCTTCCTGGC	0.627000													10	60					0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114058243	114058243	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:114058243C>A	ENST00000462705.1	-	12	2437	c.1616G>T	c.(1615-1617)tGg>tTg	p.W539L	ZBTB20_ENST00000471418.1_Missense_Mutation_p.W539L|ZBTB20_ENST00000464560.1_Missense_Mutation_p.W539L|ZBTB20_ENST00000357258.3_Missense_Mutation_p.W539L|ZBTB20_ENST00000474710.1_Missense_Mutation_p.W612L|ZBTB20_ENST00000481632.1_Missense_Mutation_p.W539L|ZBTB20_ENST00000393785.2_Missense_Mutation_p.W539L	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	612					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GAAGGAGCGCCAACAGATGCT	0.502000													11	45					3.07112e-06	3.35583e-06	1	1	0
LYST	1130	broad.mit.edu	37	1	235826344	235826344	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:235826344T>C	ENST00000389794.3	-	53	11476	c.11302A>G	c.(11302-11304)Aca>Gca	p.T3768A	LYST_ENST00000389793.2_Missense_Mutation_p.T3768A|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3768					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTGTTTGCTGTGTACAAATGG	0.413000													10	132					0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54686509	54686509	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:54686509G>A	ENST00000540264.2	-	2	1280	c.771C>T	c.(769-771)taC>taT	p.Y257Y	NFE2_ENST00000435572.2_Silent_p.Y257Y|NFE2_ENST00000312156.4_Silent_p.Y257Y|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Silent_p.Y257Y			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	257					blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						CTGTCAGCGGGTACCTTGCCA	0.547000													12	44					0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220167117	220167117	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:220167117T>C	ENST00000295718.2	-	6	976	c.736A>G	c.(736-738)Aga>Gga	p.R246G	PTPRN_ENST00000409251.3_Missense_Mutation_p.R246G|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.R156G	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	246					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GAGGCAGTTCTGCTGAAGAGG	0.627000													12	19					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54630574	54630574	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:54630574A>T	ENST00000545554.1	+	16	4600	c.4600A>T	c.(4600-4602)Agc>Tgc	p.S1534C	UNC13C_ENST00000537900.1_Missense_Mutation_p.S1532C|UNC13C_ENST00000260323.11_Missense_Mutation_p.S1534C			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1534					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGAGCTGCAAAGCCCCCCAAA	0.393000													30	104					0	0	1	0	0
TREX2	11219	broad.mit.edu	37	X	152721102	152721102	+	Translation_Start_Site	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:152721102G>A	ENST00000330912.2	-	0	857				HAUS7_ENST00000370211.4_Silent_p.Y276Y|HAUS7_ENST00000421080.2_Missense_Mutation_p.T108M|TREX2_ENST00000370232.1_De_novo_Start_OutOfFrame|HAUS7_ENST00000370219.3_Silent_p.Y286Y|HAUS7_ENST00000370212.3_Silent_p.Y286Y|TREX2_ENST00000334497.2_De_novo_Start_OutOfFrame|TREX2_ENST00000338525.2_De_novo_Start_InFrame|HAUS7_ENST00000484394.1_5'UTR			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2						DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCGTCGTCGTAGACTTGGA	0.632000								Editing and processing nucleases					5	49					0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72360277	72360277	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:72360277C>A	ENST00000001146.2	-	5	1224	c.1021G>T	c.(1021-1023)Ggc>Tgc	p.G341C	CYP26B1_ENST00000546307.1_Missense_Mutation_p.G266C|CYP26B1_ENST00000412253.1_Missense_Mutation_p.G150C	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	341					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						CGCAGTGTGCCCTCGCAGGGG	0.647000													14	38					7.93312e-07	8.74424e-07	1	1	0
KCNA2	3737	broad.mit.edu	37	1	111147389	111147389	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:111147389C>T	ENST00000485317.1	-	3	689	c.16G>A	c.(16-18)Gga>Aga	p.G6R	KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000440270.1_Missense_Mutation_p.G6R|KCNA2_ENST00000316361.4_Missense_Mutation_p.G6R|KCNA2_ENST00000369770.3_Missense_Mutation_p.G6R			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	6						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		GCTGGGTCTCCGGTGGCCACT	0.612000													37	130					0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36122729	36122729	+	Missense_Mutation	SNP	T	T	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr22:36122729T>G	ENST00000249044.2	+	3	614	c.614T>G	c.(613-615)cTg>cGg	p.L205R		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	205					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GCCAGCCGACTGGGGCCTCTG	0.468000													46	183					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161006106	161006106	+	Silent	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:161006106G>T	ENST00000447678.1	-	27	4381	c.4261C>A	c.(4261-4263)Cgg>Agg	p.R1421R	LPA_ENST00000316300.5_Silent_p.R1421R	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3929	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.R1421R(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGGATCCTCCGATGCCAATGT	0.443000													57	219					4.21013e-12	4.95573e-12	1	1	0
FCRL4	83417	broad.mit.edu	37	1	157548318	157548318	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:157548318C>A	ENST00000271532.1	-	10	1510	c.1375G>T	c.(1375-1377)Gga>Tga	p.G459*	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	459						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				ACCAAATCTCCCTTTTTGGGG	0.423000													6	99					8.12818e-05	8.65701e-05	1	1	0
DNMBP	23268	broad.mit.edu	37	10	101646372	101646372	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:101646372C>T	ENST00000342239.3	-	13	3466	c.3375G>A	c.(3373-3375)cgG>cgA	p.R1125R	DNMBP_ENST00000540316.1_Silent_p.R37R|DNMBP_ENST00000324109.4_Silent_p.R1101R|DNMBP_ENST00000543621.1_Silent_p.R347R|DNMBP_ENST00000472036.1_5'UTR			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1101	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AGATGACAAGCCGCTCTGTCC	0.473000													17	91					0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58189906	58189906	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:58189906C>A	ENST00000302581.2	-	1	880	c.829G>T	c.(829-831)Gct>Tct	p.A277S		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATGATCATAGCATAGAACACA	0.463000													9	79					0.000274275	0.000287956	1	1	0
RAB11FIP1	80223	broad.mit.edu	37	8	37730179	37730179	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:37730179T>A	ENST00000330843.4	-	4	2153	c.2141A>T	c.(2140-2142)cAa>cTa	p.Q714L	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	714					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GCTGTAGTCTTGTTTTTTGCA	0.542000													10	65					0	0	1	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140793667	140793667	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:140793667G>C	ENST00000398610.2	+	1	925	c.925G>C	c.(925-927)Gaa>Caa	p.E309Q	PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAATATCAGAAAATCTAGA	0.343000													3	15					0	0	1	0	0
DECR2	26063	broad.mit.edu	37	16	456350	456350	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:456350G>T	ENST00000219481.5	+	3	292	c.154G>T	c.(154-156)Ggc>Tgc	p.G52C	DECR2_ENST00000424398.2_Missense_Mutation_p.G52C|DECR2_ENST00000397710.1_Missense_Mutation_p.G103C	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	52						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				TTGCAGGCACGGCTGCCATAC	0.662000													13	56					0.0135373	0.0138346	1	1	0
RTN4R	65078	broad.mit.edu	37	22	20229975	20229975	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr22:20229975G>A	ENST00000043402.7	-	2	1119	c.681C>T	c.(679-681)cgC>cgT	p.R227R		NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	227					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					GTGTCATGAGGCGGCCAAGGT	0.642000													18	57					0	0	1	0	0
KLK5	25818	broad.mit.edu	37	19	51452336	51452336	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:51452336G>A	ENST00000336334.3	-	4	723	c.371C>T	c.(370-372)tCa>tTa	p.S124L	KLK5_ENST00000593428.1_Missense_Mutation_p.S124L|KLK5_ENST00000391809.2_Missense_Mutation_p.S124L	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	124	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		ATAAACTGGTGACAGGGAGTA	0.557000													20	93					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49951667	49951667	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:49951667G>T	ENST00000257981.6	+	15	3443	c.3183G>T	c.(3181-3183)gaG>gaT	p.E1061D		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	1061					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						ACAGCCTGGAGATGGTGCTTA	0.652000													6	54					0.00198382	0.00204991	1	1	0
RIMKLA	284716	broad.mit.edu	37	1	42880404	42880404	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:42880404C>T	ENST00000431473.3	+	5	1064	c.935C>T	c.(934-936)gCt>gTt	p.A312V		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	312					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GGAAAGATGGCTGTCCTCCCA	0.537000													26	112					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881404	26881404	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:26881404C>T	ENST00000231021.4	-	12	2383	c.2211G>A	c.(2209-2211)acG>acA	p.T737T		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	737					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATAGGCATACGTTGCCAGCG	0.423000													25	124					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32954225	32954225	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr13:32954225C>T	ENST00000544455.1	+	24	9426	c.9199C>T	c.(9199-9201)Cca>Tca	p.P3067S	BRCA2_ENST00000380152.3_Missense_Mutation_p.P3067S	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3067					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGACTTTCAGCCATCTTGTTC	0.333000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			5	63					0	0	1	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129939933	129939933	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:129939933A>G	ENST00000368149.2	-	6	939	c.851T>C	c.(850-852)aTg>aCg	p.M284T		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	284					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		AACTTTCTTCATGTCCTGGGG	0.378000													4	62					0	0	1	0	0
RPL8	6132	broad.mit.edu	37	8	146017463	146017463	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:146017463C>T	ENST00000262584.3	-	2	284	c.52G>A	c.(52-54)Gcg>Acg	p.A18T	RPL8_ENST00000528957.1_Missense_Mutation_p.A18T|RPL8_ENST00000394920.2_Missense_Mutation_p.A18T|RPL8_ENST00000529163.1_Intron|RPL8_ENST00000527914.1_Missense_Mutation_p.A18T	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	18					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		TTCACGTGCGCGCGGAACACA	0.697000													5	41					0	0	1	0	0
KLHL26	55295	broad.mit.edu	37	19	18778620	18778620	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:18778620G>A	ENST00000300976.4	+	3	503	c.413G>A	c.(412-414)gGc>gAc	p.G138D	KLHL26_ENST00000596843.1_3'UTR|KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	138										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GACGTGCTGGGCGCGGCCGTG	0.657000													6	89					0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73615988	73615988	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:73615988T>C	ENST00000261917.3	-	8	3439	c.2446A>G	c.(2446-2448)Aac>Gac	p.N816D		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	816					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GCACCGAGGTTGCCCAGCCCA	0.701000													5	32					0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115783383	115783383	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:115783383G>A	ENST00000343348.6	-	19	2806	c.2019C>T	c.(2017-2019)gtC>gtT	p.V673V	SEMA6A_ENST00000503865.1_Silent_p.V52V|SEMA6A_ENST00000510263.1_Silent_p.V673V|CTB-118N6.3_ENST00000508424.1_RNA|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.V690V|SEMA6A_ENST00000513137.1_Silent_p.V100V|SEMA6A_ENST00000282394.6_Silent_p.V150V	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	673					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GATGATCACAGACGCAGTAGA	0.627000													8	54					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19496296	19496296	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:19496296G>C	ENST00000538714.1	+	19	2459	c.2455G>C	c.(2455-2457)Gaa>Caa	p.E819Q	PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E519Q|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E761Q|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E692Q|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.E761Q|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E864Q|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E761Q|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E680Q|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E819Q	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	761							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GATTCAGAAAGAACTTTGGCG	0.353000													14	42					0	0	1	0	0
SLAIN2	57606	broad.mit.edu	37	4	48379984	48379984	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:48379984G>A	ENST00000264313.6	+	3	1028	c.610G>A	c.(610-612)Gcc>Acc	p.A204T	SLAIN2_ENST00000512093.1_Missense_Mutation_p.A11T|SLAIN2_ENST00000506375.1_3'UTR	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	204						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						CAGTCCAAATGCCAGTAGCCC	0.418000													21	70					0	0	1	0	0
ENTPD2	954	broad.mit.edu	37	9	139944974	139944974	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:139944974G>T	ENST00000355097.2	-	6	838	c.791C>A	c.(790-792)cCc>cAc	p.P264H	ENTPD2_ENST00000312665.5_Missense_Mutation_p.P264H	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	264						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGGCCAGCAGGGGTGGAAGCC	0.637000											OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	35					2.0095e-06	2.20123e-06	1	1	0
DIRAS2	54769	broad.mit.edu	37	9	93375631	93375631	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:93375631T>C	ENST00000375765.3	-	2	867	c.479A>G	c.(478-480)gAg>gGg	p.E160G		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	160					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						CTGGAAAAGCTCCTTCACGTT	0.572000													6	84					0	0	1	0	0
IGLL5	100423062	broad.mit.edu	37	22	23237577	23237577	+	Missense_Mutation	SNP	T	T	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr22:23237577T>G	ENST00000531372.1	+	2	454	c.229T>G	c.(229-231)Tgt>Ggt	p.C77G	IGLL5_ENST00000526893.1_Silent_p.T116T|IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000532223.1_Silent_p.T117T	NM_001256296.1	NP_001243225.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	0						extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CCAACCCCACTGTCACTCTGT	0.587000													6	27					0	0	1	0	0
FAM81A	145773	broad.mit.edu	37	15	59813562	59813562	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:59813562A>G	ENST00000288228.5	+	9	1279	c.1092A>G	c.(1090-1092)ccA>ccG	p.P364P		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	364										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						TGCAGAAGCCAGAGACCCCCA	0.547000													3	15					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27670707	27670707	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:27670707G>A	ENST00000260570.3	-	41	4614	c.4511C>T	c.(4510-4512)gCt>gTt	p.A1504V		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1504					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCGAAGATCAGCCCAGCTATG	0.478000													13	76					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560256	44560256	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:44560256T>C	ENST00000332567.4	-	1	1732	c.1380A>G	c.(1378-1380)tcA>tcG	p.S460S	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	460					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCCAGAGCTCTGAGAAGACAT	0.592000													20	119					0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158073916	158073916	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:158073916C>T	ENST00000264428.4	+	9	1221	c.951C>T	c.(949-951)gcC>gcT	p.A317A	GLRB_ENST00000509282.1_Silent_p.A317A|GLRB_ENST00000541722.1_Intron|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	317					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CAACCCTTGCCGCTGAGCTTC	0.463000													21	115					0	0	1	0	0
GOLGA1	2800	broad.mit.edu	37	9	127674182	127674182	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:127674182C>A	ENST00000373555.4	-	11	1300	c.967G>T	c.(967-969)Gag>Tag	p.E323*		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	323						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GAAGTTACCTCTTTCAGGAGT	0.453000													6	122					0.0293803	0.0297676	1	1	0
ZNF596	169270	broad.mit.edu	37	8	195577	195577	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:195577A>G	ENST00000398612.1	+	6	1113	c.730A>G	c.(730-732)Act>Gct	p.T244A	ZNF596_ENST00000308811.4_Missense_Mutation_p.T244A|ZNF596_ENST00000320552.2_Missense_Mutation_p.T174A	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		ACATGAGAGAACTCACACTGG	0.423000													7	92					0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79512907	79512907	+	Splice_Site	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:79512907G>A	ENST00000537152.1	-	6	2247	c.1720_splice	c.e6-1	p.G574_splice	C17orf70_ENST00000425898.2_Splice_Site_p.G374_splice|C17orf70_ENST00000327787.8_Splice_Site_p.G725_splice	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	725					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			ACAGGGGCACGCCTGGAGGGG	0.642000													5	21					0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58937419	58937419	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:58937419C>T	ENST00000423743.3	+	18	2657	c.2399C>T	c.(2398-2400)cCt>cTt	p.P800L	KIAA0586_ENST00000556134.1_Missense_Mutation_p.P829L|KIAA0586_ENST00000261244.5_Missense_Mutation_p.P768L|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.P897L	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	768										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCATCTCTTCCTCCTGTGCAA	0.343000													8	19					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073202	134073202	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:134073202G>T	ENST00000264360.4	+	1	2733	c.1907G>T	c.(1906-1908)gGg>gTg	p.G636V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	636	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGGCGCACCGGGGAGCTGCGC	0.682000													11	46					9.31168e-06	1.00938e-05	1	1	0
EDC4	23644	broad.mit.edu	37	16	67917626	67917626	+	Silent	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:67917626C>G	ENST00000358933.5	+	28	4244	c.4005C>G	c.(4003-4005)ctC>ctG	p.L1335L	CTC-479C5.10_ENST00000572067.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	1335					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GAACTGACCTCAAGCTCAGGT	0.612000											OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	172					0	0	1	0	0
DUS3L	56931	broad.mit.edu	37	19	5789319	5789319	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:5789319C>A	ENST00000309061.7	-	3	895	c.799G>T	c.(799-801)Gca>Tca	p.A267S	DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Intron	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	267					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CCCGGCCCTGCGGGGACCTGC	0.731000													6	19					2.0095e-06	2.20123e-06	1	1	0
ESCO2	157570	broad.mit.edu	37	8	27634626	27634626	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:27634626A>T	ENST00000305188.8	+	3	1039	c.801A>T	c.(799-801)gaA>gaT	p.E267D	ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	267					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TGGTCCTAGAAGAGAAATTGA	0.323000									SC Phocomelia syndrome				7	43					0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92406193	92406193	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:92406193G>T	ENST00000276609.3	+	18	2100	c.1861G>T	c.(1861-1863)Gga>Tga	p.G621*	SLC26A7_ENST00000309536.2_Nonsense_Mutation_p.G621*|SLC26A7_ENST00000523719.1_Nonsense_Mutation_p.G621*|SLC26A7_ENST00000520249.1_3'UTR	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	621	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GACGTATTATGGAAACCTAGA	0.363000													18	66					1.67942e-08	1.90334e-08	1	1	0
OTOGL	283310	broad.mit.edu	37	12	80707256	80707256	+	Splice_Site	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:80707256A>T	ENST00000458043.2	+	30	3430	c.3423_splice	c.e30-1	p.I1142_splice	OTOGL_ENST00000547103.1_Splice_Site_p.I1142_splice	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CATTTTTCAGATTGACGTTAC	0.323000													6	36					0	0	1	0	0
GUCA1A	2978	broad.mit.edu	37	6	42147073	42147073	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:42147073G>A	ENST00000394237.1	+	6	1514	c.538G>A	c.(538-540)Gtg>Atg	p.V180M	GUCA1A_ENST00000541991.1_Missense_Mutation_p.V180M|GUCA1A_ENST00000372958.1_Missense_Mutation_p.V180M|GUCA1A_ENST00000053469.4_Missense_Mutation_p.V180M			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	180					signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TACCCGCATCGTGCGCAGGCT	0.637000													4	40					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55176298	55176298	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:55176298C>T	ENST00000391736.1	+	7	1019	c.704C>T	c.(703-705)gCt>gTt	p.A235V	LILRB4_ENST00000391733.3_Missense_Mutation_p.A235V|LILRB4_ENST00000391734.3_Missense_Mutation_p.A235V|LILRB4_ENST00000270452.2_Missense_Mutation_p.A235V|LILRB4_ENST00000430952.2_Missense_Mutation_p.A235V	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	235						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GTCTCAACAGCTGGTGAGTCT	0.567000													6	30					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	163032540	163032540	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:163032540C>G	ENST00000306100.5	-	2	445	c.9G>C	c.(7-9)aaG>aaC	p.K3N	FSTL5_ENST00000536695.1_Missense_Mutation_p.K3N|FSTL5_ENST00000427802.2_Missense_Mutation_p.K3N|FSTL5_ENST00000379164.4_Missense_Mutation_p.K3N	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	3						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTGACCAGCACTTAAACATCC	0.343000													11	60					0	0	1	0	0
PVRIG	79037	broad.mit.edu	37	7	99818869	99818869	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:99818869C>T	ENST00000317271.2	+	6	1339	c.976C>T	c.(976-978)Cga>Tga	p.R326*	GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_Intron	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	326						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTAGGAGTTCGATGAGAGAG	0.607000													3	16					0	0	1	0	0
LAX1	54900	broad.mit.edu	37	1	203741240	203741240	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:203741240C>T	ENST00000442561.2	+	4	745	c.355C>T	c.(355-357)Ctc>Ttc	p.L119F	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.L103F	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	119					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TACTGAGAGCCTCCTCTCCAG	0.493000													19	82					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3746678	3746678	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:3746678A>G	ENST00000541714.2	+	17	2668	c.2206A>G	c.(2206-2208)Agc>Ggc	p.S736G	TJP3_ENST00000262968.9_Missense_Mutation_p.S769G|TJP3_ENST00000587686.1_Missense_Mutation_p.S755G|TJP3_ENST00000589378.1_Missense_Mutation_p.S745G|TJP3_ENST00000539908.2_Missense_Mutation_p.S700G|TJP3_ENST00000382008.3_Missense_Mutation_p.S750G	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	750	Guanylate kinase-like.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AAAACACAGCAGCCACCTCTT	0.697000													3	15					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92459756	92459756	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:92459756A>G	ENST00000370389.2	+	15	2937	c.2013A>G	c.(2011-2013)ttA>ttG	p.L671L	BRDT_ENST00000362005.3_Silent_p.L744L|BRDT_ENST00000399546.2_Silent_p.L744L|BRDT_ENST00000394530.3_Silent_p.L698L|BRDT_ENST00000402388.1_Silent_p.L744L	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	744					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ATCAAGAATTAGAACATTTAC	0.358000													7	75					0	0	1	0	0
FRMD1	79981	broad.mit.edu	37	6	168465694	168465694	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:168465694G>A	ENST00000283309.6	-	5	569	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000537786.1_5'UTR|FRMD1_ENST00000440994.2_Missense_Mutation_p.R101C	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	169	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CTCAGCACGCGCTCCTTCAAG	0.672000													8	55					0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33405509	33405509	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:33405509C>A	ENST00000418600.2	+	8	928	c.827C>A	c.(826-828)cCc>cAc	p.P276H	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P276H|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.P217H	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	276	C2.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GAGCTGCCCCCCAAGAAGCGG	0.607000													55	146					9.52127e-25	1.16014e-24	1	1	0
GLIPR1	11010	broad.mit.edu	37	12	75875825	75875825	+	Missense_Mutation	SNP	G	G	A	rs139100030		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:75875825G>A	ENST00000266659.3	+	2	587	c.386G>A	c.(385-387)cGg>cAg	p.R129Q		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	129					cellular lipid metabolic process	extracellular region|integral to membrane		p.R129Q(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						TTCAAGACTCGGATATGCAAA	0.428000													9	109					0	0	1	0	0
APMAP	57136	broad.mit.edu	37	20	24964616	24964616	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:24964616C>A	ENST00000217456.2	-	2	425	c.135G>T	c.(133-135)atG>atT	p.M45I	APMAP_ENST00000447138.1_Missense_Mutation_p.M45I	NM_020531.2	NP_065392.1			adipocyte plasma membrane associated protein																		AAACAGCCAGCATCAAGAAGG	0.522000													23	79					6.44725e-10	7.43073e-10	1	1	0
PHAX	51808	broad.mit.edu	37	5	125939778	125939778	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:125939778G>C	ENST00000297540.4	+	2	1308	c.613G>C	c.(613-615)Gac>Cac	p.D205H		NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	205	Necessary for interaction with CBP80 (By similarity).				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						ACCTGTCAAAGACAGGCTAGG	0.418000													9	72					0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100244608	100244608	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:100244608G>A	ENST00000160382.5	-	10	1028	c.922C>T	c.(922-924)Ccc>Tcc	p.P308S		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	308					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					ACGTTCGAGGGATCAAACAGG	0.622000													12	51					0	0	1	0	0
IFI44	10561	broad.mit.edu	37	1	79116148	79116148	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:79116148T>A	ENST00000370747.4	+	2	353	c.268T>A	c.(268-270)Tgg>Agg	p.W90R	IFI44_ENST00000495254.1_Intron|IFI44_ENST00000545124.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	90					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						AATTTCAGAATGGAAACTAGG	0.343000													6	124					0	0	1	0	0
VPS45	11311	broad.mit.edu	37	1	150053436	150053436	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:150053436G>T	ENST00000369130.3	+	8	1246	c.700G>T	c.(700-702)Gcc>Tcc	p.A234S	VPS45_ENST00000535106.1_Missense_Mutation_p.A165S|VPS45_ENST00000369128.5_Missense_Mutation_p.A129S	NM_007259.3	NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	234					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GACATATCAGGCCATGGTCCA	0.358000													4	52					0.00909568	0.00931162	1	1	0
NHLRC1	378884	broad.mit.edu	37	6	18122390	18122390	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:18122390G>A	ENST00000340650.3	-	1	461	c.448C>T	c.(448-450)Cgt>Tgt	p.R150C		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	150					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			ATCTTGACACGCCTCCTGCCG	0.622000													4	71					0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25635052	25635052	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:25635052G>A	ENST00000330688.4	+	6	1266	c.845G>A	c.(844-846)gGc>gAc	p.G282D	RARB_ENST00000437042.2_Missense_Mutation_p.G170D|RARB_ENST00000458646.1_Missense_Mutation_p.G170D|RARB_ENST00000404969.1_Missense_Mutation_p.G289D|RARB_ENST00000462272.1_Intron	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	289	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TTCTCAGACGGCCTTACCCTA	0.448000													5	110					0	0	1	0	0
AKAP10	11216	broad.mit.edu	37	17	19845162	19845162	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:19845162T>C	ENST00000225737.6	-	6	1195	c.1038A>G	c.(1036-1038)atA>atG	p.I346M	AKAP10_ENST00000395536.3_Missense_Mutation_p.I346M	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	346	RGS 1.				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					CACTAAAGACTATGGACTGTG	0.393000													11	26					0	0	1	0	0
TBX4	9496	broad.mit.edu	37	17	59557522	59557522	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:59557522C>T	ENST00000393853.4	+	8	1026	c.863C>T	c.(862-864)cCg>cTg	p.P288L	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Missense_Mutation_p.P288L			P57082	TBX4_HUMAN	T-box 4	288					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TCAGCCACACCGGACGTGGGC	0.642000													14	120					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77327137	77327137	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:77327137G>A	ENST00000282849.5	-	20	3443	c.3025C>T	c.(3025-3027)Cga>Tga	p.R1009*		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1009	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTCACCCCTCGTCCACAGGTC	0.488000													4	81					0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799636	45799636	+	Missense_Mutation	SNP	A	A	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:45799636A>C	ENST00000553795.1	-	4	543	c.235T>G	c.(235-237)Ttt>Gtt	p.F79V	OR13A1_ENST00000374401.2_Missense_Mutation_p.F79V|OR13A1_ENST00000536058.1_Missense_Mutation_p.F79V	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AGTAAGAAAAAGTACATAGGA	0.517000													12	26					0	0	1	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186908223	186908223	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:186908223G>A	ENST00000367466.3	+	9	931	c.779G>A	c.(778-780)aGc>aAc	p.S260N	PLA2G4A_ENST00000466600.1_3'UTR|PLA2G4A_ENST00000442353.2_Missense_Mutation_p.S200N	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	260	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	AAAAATGTTAGCCACAATCCC	0.368000													14	112					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	48098895	48098895	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:48098895C>T	ENST00000371741.4	-	1	289	c.123G>A	c.(121-123)gcG>gcA	p.A41A		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	41					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTACCTCGTGCGCCAGCCCCC	0.711000													3	8					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			6	24					0.217242	0.217858	1	1	0
HIST1H2BF	8343	broad.mit.edu	37	6	26200031	26200031	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:26200031C>T	ENST00000359985.1	+	1	284	c.245C>T	c.(244-246)gCg>gTg	p.A82V		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	82					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				TCCCGCCTGGCGCATTACAAC	0.632000													46	148					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31473803	31473803	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:31473803G>A	ENST00000457010.2	+	3	1636	c.935G>A	c.(934-936)gGc>gAc	p.G312D	ARMC5_ENST00000563544.1_Missense_Mutation_p.G312D|ARMC5_ENST00000538189.1_Missense_Mutation_p.G344D|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000408912.3_Missense_Mutation_p.G407D|ARMC5_ENST00000268314.4_Missense_Mutation_p.G312D	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	312							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TGTGCCCAGGGCCTGATTCGG	0.652000													12	34					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72891997	72891997	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:72891997C>A	ENST00000264839.7	+	6	823	c.823C>A	c.(823-825)Cca>Aca	p.P275T	RIMS1_ENST00000521978.1_Missense_Mutation_p.P275T|RIMS1_ENST00000518273.1_Missense_Mutation_p.P275T|RIMS1_ENST00000520567.1_Missense_Mutation_p.P275T|RIMS1_ENST00000348717.5_Missense_Mutation_p.P275T|RIMS1_ENST00000517960.1_Missense_Mutation_p.P275T|RIMS1_ENST00000522291.1_Missense_Mutation_p.P275T|RIMS1_ENST00000491071.2_Missense_Mutation_p.P275T			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	275					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AAAGAAGACCCCAGGGCTTTC	0.478000													9	55					3.09899e-07	3.43511e-07	1	1	0
APOB	338	broad.mit.edu	37	2	21260890	21260890	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:21260890G>A	ENST00000233242.1	-	5	604	c.477C>T	c.(475-477)ggC>ggT	p.G159G	APOB_ENST00000399256.4_Silent_p.G159G	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	159	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAGAAATGATGCCCCTCTTGA	0.493000													6	96					0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149882396	149882396	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:149882396C>T	ENST00000369146.3	-	4	1427	c.937G>A	c.(937-939)Gcc>Acc	p.A313T	SV2A_ENST00000369145.1_Missense_Mutation_p.A313T	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	313					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GGGATGATGGCCCAGGCCATA	0.587000													9	68					0	0	1	0	0
PARP9	83666	broad.mit.edu	37	3	122255189	122255189	+	Splice_Site	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:122255189C>T	ENST00000462315.1	-	10	2199	c.1905_splice	c.e10-1	p.V636_splice	PARP9_ENST00000360356.2_Splice_Site_p.V671_splice|PARP9_ENST00000477522.2_Splice_Site_p.V636_splice|PARP9_ENST00000492382.1_Splice_Site_p.V216_splice|PARP9_ENST00000471785.1_Splice_Site_p.V636_splice	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	671	PARP catalytic.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		ATCTTCTCCACCTAGAACCAT	0.398000													11	61					0	0	1	0	0
BCL3	602	broad.mit.edu	37	19	45260649	45260649	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:45260649C>T	ENST00000164227.5	+	5	1034	c.790C>T	c.(790-792)Cgc>Tgc	p.R264C		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	264					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CTTGCTAGAGCGCGGTGCCGA	0.682000			T	IGH@	CLL								3	17					0	0	1	0	0
KIR3DL3	115653	broad.mit.edu	37	19	55247296	55247296	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:55247296T>C	ENST00000291860.1	+	7	1082	c.1064T>C	c.(1063-1065)gTa>gCa	p.V355A	CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	355						integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		GATGCTGTTGTAATGGACCAA	0.522000													23	139					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182823294	182823294	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:182823294G>T	ENST00000367549.3	+	6	717	c.607G>T	c.(607-609)Gtg>Ttg	p.V203L		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	203	DRBM 2.|Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GTACACCCAAGTGGGTCCTGA	0.368000													26	75					7.38237e-10	8.49188e-10	1	1	0
WNT16	51384	broad.mit.edu	37	7	120971960	120971960	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:120971960G>A	ENST00000222462.2	+	3	865	c.575G>A	c.(574-576)gGc>gAc	p.G192D	WNT16_ENST00000361301.2_Missense_Mutation_p.G182D	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	192					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					AACACCACGGGCAAAGAAAAC	0.453000													15	54					0	0	1	0	0
SLC22A1	6580	broad.mit.edu	37	6	160575895	160575895	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:160575895T>C	ENST00000366963.4	+	9	1598	c.1451T>C	c.(1450-1452)gTc>gCc	p.V484A	SLC22A1_ENST00000324965.4_Intron|SLC22A1_ENST00000457470.2_Intron	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	484						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CCCTTCATAGTCTTCAGGCTG	0.458000													11	47					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56205031	56205031	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:56205031C>T	ENST00000361673.3	-	5	2601	c.2388G>A	c.(2386-2388)agG>agA	p.R796R	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	796							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTCTCTGTCCCTTGGCTCAT	0.498000													26	102					0	0	1	0	0
SPRR3	6707	broad.mit.edu	37	1	152975613	152975613	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:152975613G>T	ENST00000331860.3	+	3	267	c.117G>T	c.(115-117)gaG>gaT	p.E39D	SPRR3_ENST00000542696.1_Missense_Mutation_p.E39D|SPRR3_ENST00000295367.4_Missense_Mutation_p.E39D	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	39					keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAACCAAGGAGCCATGCCACT	0.542000													25	63					9.86323e-18	1.19358e-17	1	1	0
PPEF2	5470	broad.mit.edu	37	4	76811217	76811217	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:76811217C>A	ENST00000286719.7	-	5	666	c.310G>T	c.(310-312)Gac>Tac	p.D104Y		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	104					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GATTCATAGTCACTGCATTTC	0.522000													16	119					9.16793e-09	1.04304e-08	1	1	0
AGL	178	broad.mit.edu	37	1	100382040	100382040	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:100382040A>T	ENST00000294724.4	+	32	4812	c.4334A>T	c.(4333-4335)tAt>tTt	p.Y1445F	AGL_ENST00000370165.3_Missense_Mutation_p.Y1445F|AGL_ENST00000361522.4_Missense_Mutation_p.Y1428F|AGL_ENST00000370163.3_Missense_Mutation_p.Y1445F|AGL_ENST00000370161.2_Missense_Mutation_p.Y1429F|AGL_ENST00000361915.3_Missense_Mutation_p.Y1445F|AGL_ENST00000361302.3_Missense_Mutation_p.Y1429F	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1445					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GGTTTCAATTATCACCAAGGA	0.264000													7	30					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78772027	78772027	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:78772027C>T	ENST00000545128.1	+	11	1917	c.1379C>T	c.(1378-1380)aCc>aTc	p.T460I	PCSK5_ENST00000376767.3_Missense_Mutation_p.T460I|PCSK5_ENST00000376752.4_Missense_Mutation_p.T460I	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	460					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GAGAAGTGGACCACCGTTCCC	0.522000													23	80					0	0	1	0	0
SLC35A1	10559	broad.mit.edu	37	6	88218206	88218206	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:88218206C>T	ENST00000369552.4	+	6	670	c.643C>T	c.(643-645)Cta>Tta	p.L215L	SLC35A1_ENST00000464978.1_3'UTR|C6orf165_ENST00000506888.1_3'UTR|SLC35A1_ENST00000544441.1_Silent_p.L81L|SLC35A1_ENST00000369556.3_Intron|SLC35A1_ENST00000369557.5_Intron	NM_006416.4	NP_006407.1	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid transporter), member A1	215					carbohydrate metabolic process|protein modification process	Golgi membrane|integral to plasma membrane	CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TCAAATGTATCTATCAGGGAT	0.313000													11	39					0	0	1	0	0
EARS2	124454	broad.mit.edu	37	16	23546229	23546229	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:23546229T>C	ENST00000449606.1	-	4	969	c.938A>G	c.(937-939)aAc>aGc	p.N313S	EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000564501.1_Missense_Mutation_p.N313S|EARS2_ENST00000563232.1_Missense_Mutation_p.N313S|EARS2_ENST00000563459.1_Missense_Mutation_p.N313S	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	313					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	TGAGCCACAGTTGGTGATGAT	0.567000													4	26					0	0	1	0	0
GRK6	2870	broad.mit.edu	37	5	176859091	176859091	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:176859091G>A	ENST00000355472.5	+	3	412	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	GRK6_ENST00000355958.5_Missense_Mutation_p.A82T|GRK6_ENST00000393576.3_Missense_Mutation_p.A82T|GRK6_ENST00000507633.1_Missense_Mutation_p.A82T|GRK6_ENST00000528793.1_Missense_Mutation_p.A82T	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	82	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGCTGCGTCGCCTTCCTGGA	0.687000													9	92					0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142229761	142229761	+	Missense_Mutation	SNP	C	C	A	rs61995883		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:142229761C>A	ENST00000519067.1	-	3	748	c.445G>T	c.(445-447)Gcc>Tcc	p.A149S	SLC45A4_ENST00000517878.1_Missense_Mutation_p.A200S|SLC45A4_ENST00000433583.2_Missense_Mutation_p.A142S|SLC45A4_ENST00000024061.3_Missense_Mutation_p.A149S			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	200					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GCAGAGAAGGCGTGGATGTTG	0.672000													4	21					0.014758	0.0149955	1	1	0
NAV3	89795	broad.mit.edu	37	12	78522602	78522602	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:78522602C>A	ENST00000397909.2	+	18	4570	c.4397C>A	c.(4396-4398)gCc>gAc	p.A1466D	NAV3_ENST00000266692.7_Missense_Mutation_p.A1289D|NAV3_ENST00000228327.6_Missense_Mutation_p.A1466D|NAV3_ENST00000536525.2_Missense_Mutation_p.A1466D			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1466	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCCCCTTCTGCCATGTCATCT	0.453000										HNSCC(70;0.22)			17	88					6.94344e-10	7.9974e-10	1	1	0
CETN1	1068	broad.mit.edu	37	18	580764	580764	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:580764G>A	ENST00000327228.3	+	1	398	c.356G>A	c.(355-357)gGg>gAg	p.G119E		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	119	EF-hand 3.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GATGAGACCGGGAAGATCTCG	0.527000													9	65					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47297795	47297795	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:47297795C>A	ENST00000396220.1	-	11	1435	c.1413G>T	c.(1411-1413)ttG>ttT	p.L471F	PREX1_ENST00000371941.3_Missense_Mutation_p.L471F			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	471	DEP 1.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGCCATTCTCCAACAGGGCTT	0.557000													54	240					1.56989e-16	1.88815e-16	1	1	0
TAOK2	9344	broad.mit.edu	37	16	29990327	29990327	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:29990327G>A	ENST00000308893.4	+	6	1428	c.385G>A	c.(385-387)Gca>Aca	p.A129T	TAOK2_ENST00000279394.3_Missense_Mutation_p.A129T|TAOK2_ENST00000543033.1_Missense_Mutation_p.A129T	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	129	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGTAGAGATCGCAGCTGTGAC	0.577000													16	158					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43715979	43715979	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr22:43715979C>A	ENST00000360835.3	-	3	439	c.313G>T	c.(313-315)Ggc>Tgc	p.G105C	SCUBE1_ENST00000290460.7_Missense_Mutation_p.G105C	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	105	EGF-like 2; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				AGCATGAAGCCATCAAAGCAG	0.532000													15	81					3.27435e-08	3.68495e-08	1	1	0
RSBN1L	222194	broad.mit.edu	37	7	77325971	77325971	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:77325971G>A	ENST00000334955.7	+	1	212	c.185G>A	c.(184-186)aGc>aAc	p.S62N		NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	62						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAAGGGGGCAGCGGCGGGAAC	0.667000													3	27					0	0	1	0	0
CSDE1	7812	broad.mit.edu	37	1	115266615	115266615	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:115266615T>C	ENST00000438362.2	-	16	2278	c.1900A>G	c.(1900-1902)Att>Gtt	p.I634V	CSDE1_ENST00000339438.6_Missense_Mutation_p.I557V|CSDE1_ENST00000261443.5_Missense_Mutation_p.I557V|CSDE1_ENST00000369530.1_Missense_Mutation_p.I603V|CSDE1_ENST00000358528.4_Missense_Mutation_p.I588V|CSDE1_ENST00000534699.1_Missense_Mutation_p.I588V|CSDE1_ENST00000530886.1_Missense_Mutation_p.I458V	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	588	CSD 8.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTCAGTAATGCCATTCACT	0.383000													36	99					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076437	9076437	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:9076437G>T	ENST00000397910.4	-	3	11212	c.11009C>A	c.(11008-11010)gCa>gAa	p.A3670E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3671	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGAGTAGATGCAGTTGTGTC	0.453000													17	103					3.45872e-05	3.72639e-05	1	1	0
TRPV5	56302	broad.mit.edu	37	7	142625885	142625885	+	Silent	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:142625885G>T	ENST00000265310.1	-	6	1011	c.663C>A	c.(661-663)tcC>tcA	p.S221S	TRPV5_ENST00000442623.1_Silent_p.S221S	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	221					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GTCCATCGTAGGACAGCAGCA	0.567000													18	89					1.99824e-07	2.22474e-07	1	1	0
DNAH17	8632	broad.mit.edu	37	17	76567820	76567820	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:76567820G>A	ENST00000389840.5	-	4	708	c.584C>T	c.(583-585)aCc>aTc	p.T195I	DNAH17_ENST00000585328.1_Missense_Mutation_p.T195I					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GATGATGGTGGTTTCAATGGC	0.607000													14	68					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109793743	109793743	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:109793743G>T	ENST00000271332.3	+	1	1103	c.1042G>T	c.(1042-1044)Gtg>Ttg	p.V348L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	348	Cadherin 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCGCTCTGGGGTGATCCGAAC	0.622000													9	72					3.86212e-05	4.14083e-05	1	1	0
CCDC178	374864	broad.mit.edu	37	18	30977140	30977140	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:30977140C>G	ENST00000383096.3	-	4	273	c.91G>C	c.(91-93)Gag>Cag	p.E31Q	CCDC178_ENST00000402325.1_Missense_Mutation_p.E31Q|CCDC178_ENST00000403303.1_Missense_Mutation_p.E31Q|CCDC178_ENST00000300227.8_Missense_Mutation_p.E31Q|CCDC178_ENST00000579916.1_Missense_Mutation_p.E31Q|CCDC178_ENST00000406524.2_Missense_Mutation_p.E31Q|CCDC178_ENST00000583930.1_Missense_Mutation_p.E31Q|CCDC178_ENST00000579947.1_Missense_Mutation_p.E31Q					coiled-coil domain containing 178																		CATGCCTTCTCTCTGAGAGCC	0.299000													9	55					0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169535129	169535129	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:169535129G>A	ENST00000306268.6	+	2	712	c.651G>A	c.(649-651)aaG>aaA	p.K217K	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	217					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAAAAGGAAGAGAAAATCAG	0.502000									Pendred syndrome				4	76					0	0	1	0	0
PTOV1	53635	broad.mit.edu	37	19	50360277	50360277	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:50360277G>A	ENST00000391842.1	+	6	774	c.604G>A	c.(604-606)Gtg>Atg	p.V202M	AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000599732.1_Missense_Mutation_p.V202M|PTOV1_ENST00000600603.1_Missense_Mutation_p.V170M|PTOV1_ENST00000221557.9_Missense_Mutation_p.V170M|PTOV1_ENST00000601638.1_Missense_Mutation_p.V170M|PTOV1_ENST00000601675.1_Missense_Mutation_p.V202M	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	202	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		TGAGGTGCGCGTGCTCATGCT	0.657000													43	182					0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20444329	20444329	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:20444329G>A	ENST00000305051.5	+	1	727	c.652G>A	c.(652-654)Gtt>Att	p.V218I		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGACACTTATGTTGTCAGCTT	0.403000													45	178					0	0	1	0	0
IGHV4-31	28396	broad.mit.edu	37	14	106805478	106805478	+	RNA	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:106805478C>T	ENST00000438142.2	-	0	156																											TTCACCAGTCCTGGGCCCGAC	0.607000													14	76					0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981721	61981721	+	Missense_Mutation	SNP	A	A	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:61981721A>C	ENST00000370263.4	-	5	1263	c.1042T>G	c.(1042-1044)Ttc>Gtc	p.F348V	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	348					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	ATGTCCAGGAAGACCCTGCGT	0.617000													17	62					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54630678	54630678	+	Silent	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:54630678A>T	ENST00000545554.1	+	16	4704	c.4704A>T	c.(4702-4704)ctA>ctT	p.L1568L	UNC13C_ENST00000537900.1_Silent_p.L1566L|UNC13C_ENST00000260323.11_Silent_p.L1568L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1568					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACTCCCAGCTAACAGACCCGG	0.383000													15	77					0	0	1	0	0
FAM20A	54757	broad.mit.edu	37	17	66533671	66533671	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:66533671C>T	ENST00000592554.1	-	11	2295	c.1573G>A	c.(1573-1575)Ggc>Agc	p.G525S	FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	525						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					TCCACTGGGCCGTCGACTATG	0.572000													4	25					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35644537	35644537	+	Silent	SNP	C	C	T	rs142312352	byFrequency	TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:35644537C>T	ENST00000440995.2	+	4	495	c.495C>T	c.(493-495)caC>caT	p.H165H	SPEF2_ENST00000509059.1_Silent_p.H165H|SPEF2_ENST00000356031.3_Silent_p.H165H|SPEF2_ENST00000282469.6_Silent_p.H165H			Q9C093	SPEF2_HUMAN	sperm flagellar 2	165					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATATAAACACGTGAAAGAAG	0.323000													3	22					0	0	1	0	0
SLC7A4	6545	broad.mit.edu	37	22	21385396	21385396	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr22:21385396C>T	ENST00000382932.2	-	2	773	c.706G>A	c.(706-708)Ggc>Agc	p.G236S	SLC7A4_ENST00000403586.1_Missense_Mutation_p.G236S	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	236					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCCATGACGCCGGAGAAGCCG	0.617000													12	43					0	0	1	0	0
CMA1	1215	broad.mit.edu	37	14	24975309	24975309	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:24975309G>A	ENST00000250378.3	-	4	554	c.525C>T	c.(523-525)tgC>tgT	p.C175C	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Silent_p.C64C	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	175	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		TGAAGTGGCTGCAGGCCTGGG	0.532000													7	54					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31326342	31326342	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:31326342T>A	ENST00000269197.5	+	12	6530	c.6530T>A	c.(6529-6531)aTt>aAt	p.I2177N		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCCATTGGGATTTTGGGAAGT	0.478000													17	113					0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124534997	124534997	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:124534997G>A	ENST00000408936.3	+	12	2372	c.2190G>A	c.(2188-2190)tcG>tcA	p.S730S	DAB2IP_ENST00000259371.2_Silent_p.S702S|DAB2IP_ENST00000309989.1_Silent_p.S606S			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	730					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CGAGTTACTCGGAAGCCAACG	0.617000													8	54					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135291548	135291548	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:135291548C>G	ENST00000285968.6	+	21	2981	c.2955C>G	c.(2953-2955)atC>atG	p.I985M		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	985					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AAACAAGAATCCACATCTTGA	0.358000													7	108					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251953	25251953	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:25251953C>T	ENST00000328086.7	-	7	2891	c.2088G>A	c.(2086-2088)caG>caA	p.Q696Q		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	696					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GGTCGGTACTCTGGGAAACAA	0.423000													14	90					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27454287	27454287	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:27454287G>C	ENST00000337929.3	+	5	830	c.357G>C	c.(355-357)aaG>aaC	p.K119N	IL21R_ENST00000395755.1_Missense_Mutation_p.K119N|IL21R_ENST00000395754.4_Missense_Mutation_p.K119N|IL21R_ENST00000564089.1_Missense_Mutation_p.K119N	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	119					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						ACCAAGTCAAGCCGGCTCCCC	0.522000			T	BCL6	NHL								32	124					0	0	1	0	0
PKN3	29941	broad.mit.edu	37	9	131482827	131482827	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:131482827G>A	ENST00000291906.4	+	22	3005	c.2612G>A	c.(2611-2613)cGc>cAc	p.R871H		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	871	AGC-kinase C-terminal.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						CTCACTGCCCGCCAACAGGCC	0.652000													9	51					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100536	168100536	+	Silent	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:168100536A>T	ENST00000409195.1	+	9	2723	c.2634A>T	c.(2632-2634)ctA>ctT	p.L878L	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L878L|XIRP2_ENST00000409273.1_Silent_p.L656L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	703					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTAAGCATCTATTTGAAACAC	0.378000													30	101					0	0	1	0	0
LHB	3972	broad.mit.edu	37	19	49519561	49519561	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:49519561C>T	ENST00000221421.2	-	3	189	c.190G>A	c.(190-192)Gtg>Atg	p.V64M		NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide	64					cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction	extracellular region|soluble fraction	hormone activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Lutropin alfa(DB00044)|Menotropins(DB00032)	GCCTGCAGCACGCGCATCTGG	0.672000													6	96					0	0	1	0	0
MSMO1	6307	broad.mit.edu	37	4	166262968	166262968	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:166262968A>T	ENST00000261507.6	+	6	925	c.752A>T	c.(751-753)gAt>gTt	p.D251V	MSMO1_ENST00000393766.2_Missense_Mutation_p.D120V	NM_006745.4	NP_006736.1	Q15800	ERG25_HUMAN	methylsterol monooxygenase 1	251					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding									NADH(DB00157)	CGGCATCATGATTTCCACCAC	0.348000													10	99					0	0	1	0	0
CAMKV	79012	broad.mit.edu	37	3	49897039	49897039	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:49897039G>A	ENST00000463537.1	-	11	1200	c.1013C>T	c.(1012-1014)cCg>cTg	p.P338L	CAMKV_ENST00000488336.1_Silent_p.T375T|CAMKV_ENST00000467248.1_Silent_p.T331T|CAMKV_ENST00000466940.1_Silent_p.T332T|CAMKV_ENST00000296471.7_Silent_p.T378T|CAMKV_ENST00000477224.1_Silent_p.T406T	NM_024046.3	NP_076951.2	Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	0	Ala-rich.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGCTTCCATCGGTGGCTGGGG	0.612000													33	147					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12976219	12976219	+	Silent	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:12976219C>A	ENST00000251472.4	+	15	1767	c.1728C>A	c.(1726-1728)atC>atA	p.I576I		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	576	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TGGGGATCATCCTCTACGAGT	0.602000													30	105					1.75199e-13	2.07747e-13	1	1	0
IGSF3	3321	broad.mit.edu	37	1	117122188	117122188	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:117122188G>A	ENST00000369486.3	-	10	3925	c.3160C>T	c.(3160-3162)Cgc>Tgc	p.R1054C	IGSF3_ENST00000369483.1_Missense_Mutation_p.R1074C|IGSF3_ENST00000318837.6_Missense_Mutation_p.R1074C	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1054	Ig-like C2-type 8.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CTCTGGAAGCGAAGCCTGCCC	0.647000													4	48					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7586146	7586146	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:7586146C>A	ENST00000313599.3	-	3	326	c.269G>T	c.(268-270)gGa>gTa	p.G90V	CD163L1_ENST00000416109.2_Missense_Mutation_p.G90V|CD163L1_ENST00000396630.1_Missense_Mutation_p.G90V			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	90	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AAATGGACATCCAAGCTGTTT	0.473000													15	97					2.61681e-11	3.04778e-11	1	1	0
CPAMD8	27151	broad.mit.edu	37	19	17013617	17013617	+	Silent	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:17013617G>C	ENST00000443236.1	-	35	4699	c.4668C>G	c.(4666-4668)ctC>ctG	p.L1556L		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1509						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGAGGCTTACGAGCAGCTGGA	0.657000													25	134					0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	33136772	33136772	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:33136772G>A	ENST00000375030.2	+	19	1924	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	C10orf68_ENST00000375028.3_Missense_Mutation_p.E481K|C10orf68_ENST00000375025.4_Missense_Mutation_p.E541K			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	477										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						GACTGATGTAGAACCCTTGAC	0.284000													10	102					0	0	1	0	0
CSE1L	1434	broad.mit.edu	37	20	47711371	47711371	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:47711371T>A	ENST00000262982.2	+	24	2820	c.2697T>A	c.(2695-2697)taT>taA	p.Y899*	CSE1L_ENST00000469700.1_3'UTR|CSE1L_ENST00000396192.3_Nonsense_Mutation_p.Y843*|CSE1L_ENST00000542325.1_Nonsense_Mutation_p.Y682*	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	899					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			CACCAGGATATCAGACTGCCT	0.408000													14	71					0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154626387	154626387	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:154626387A>G	ENST00000260010.6	+	1	3736	c.2328A>G	c.(2326-2328)gtA>gtG	p.V776V		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	776	TIR.				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				GATTTTGGGTAAATCTGAGAG	0.463000													8	92					0	0	1	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118006110	118006110	+	Nonsense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:118006110G>C	ENST00000310754.4	-	1	626	c.440C>G	c.(439-441)tCa>tGa	p.S147*		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	147	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AGTTGGGTCTGACAGGCAGTT	0.383000													8	104					0	0	1	0	0
TBRG4	9238	broad.mit.edu	37	7	45145190	45145190	+	Silent	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:45145190T>A	ENST00000258770.3	-	3	706	c.585A>T	c.(583-585)tcA>tcT	p.S195S	TBRG4_ENST00000395655.4_Silent_p.S195S|TBRG4_ENST00000361278.3_Silent_p.S195S|TBRG4_ENST00000494076.1_Silent_p.S195S	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	195					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						GCTGCTCCTGTGAGAGGGTGG	0.587000													35	131					0	0	1	0	0
FES	2242	broad.mit.edu	37	15	91432605	91432605	+	Silent	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:91432605G>T	ENST00000328850.3	+	6	880	c.738G>T	c.(736-738)cgG>cgT	p.R246R	FES_ENST00000450438.2_Silent_p.R188R|FES_ENST00000414248.2_Silent_p.R188R|FES_ENST00000444422.2_Silent_p.R246R|FES_ENST00000394300.3_Silent_p.R188R|FES_ENST00000394302.1_Silent_p.R188R	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	246	Important for interaction with membranes containing phosphoinositides.		R -> Q (in dbSNP:rs34573430).		axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCATTCACCGGGAGATGGCTG	0.632000													8	67					5.4927e-09	6.25715e-09	1	1	0
IGKV3-7	28915	broad.mit.edu	37	2	89278277	89278277	+	RNA	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:89278277T>A	ENST00000390247.2	-	0	154																											ACAATTTCTCTGGTGGTATCC	0.443000													26	102					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185731144	185731144	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:185731144A>T	ENST00000302277.6	+	2	754	c.160A>T	c.(160-162)Aag>Tag	p.K54*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	54						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GGAAGATCTGAAGGCAAATTT	0.383000													10	59					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10322277	10322277	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:10322277G>A	ENST00000403437.2	-	4	375	c.281C>T	c.(280-282)gCc>gTc	p.A94V	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	94	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGTCATCATGGCCATGTCCTC	0.453000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				20	125					0	0	1	0	0
NTF4	4909	broad.mit.edu	37	19	49565009	49565009	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:49565009C>T	ENST00000301411.3	-	2	386	c.246G>A	c.(244-246)gtG>gtA	p.V82V	NTF4_ENST00000451356.2_Intron|NTF4_ENST00000593537.1_Silent_p.V82V	NM_006179.4	NP_006170.1	P34130	NTF4_HUMAN	neurotrophin 4	82					adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CAGTTTCGCTCACCCCACGCC	0.697000													6	15					0	0	1	0	0
SLC12A1	6557	broad.mit.edu	37	15	48591463	48591463	+	Silent	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:48591463C>G	ENST00000396577.3	+	25	3302	c.3087C>G	c.(3085-3087)gtC>gtG	p.V1029V	SLC12A1_ENST00000380993.3_Silent_p.V1029V|SLC12A1_ENST00000558405.1_Silent_p.V1029V	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	1029					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TGGAAGCAGTCAAGGAAAAGG	0.338000													8	16					0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95056413	95056413	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:95056413C>A	ENST00000329597.7	+	4	865	c.655C>A	c.(655-657)Caa>Aaa	p.Q219K	SERPINA5_ENST00000553780.1_Missense_Mutation_p.Q219K|SERPINA5_ENST00000554866.1_Missense_Mutation_p.Q219K|SERPINA5_ENST00000554276.1_Missense_Mutation_p.Q219K	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	219					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CAAAGGCACCCAAGAGCAAGA	0.473000													7	31					0.00198382	0.00204991	1	1	0
CATSPERG	57828	broad.mit.edu	37	19	38845464	38845464	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:38845464A>T	ENST00000409235.3	+	9	1227	c.1112A>T	c.(1111-1113)tAt>tTt	p.Y371F	CATSPERG_ENST00000215069.4_Missense_Mutation_p.Y384F|CATSPERG_ENST00000410018.1_Missense_Mutation_p.Y371F	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	371					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CATGAGGGTTATGTACACTTC	0.562000													31	166					0	0	1	0	0
SLC25A10	1468	broad.mit.edu	37	17	79682017	79682017	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:79682017G>A	ENST00000331531.5	+	2	248	c.128G>A	c.(127-129)cGc>cAc	p.R43H	SLC25A10_ENST00000541223.1_Missense_Mutation_p.R198H|SLC25A10_ENST00000545862.1_5'UTR|SLC25A10_ENST00000571730.1_Missense_Mutation_p.R198H|SLC25A10_ENST00000350690.5_Missense_Mutation_p.R43H	NM_001270888.1	NP_001257817.1	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	43					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	GTGAAGCTGCGCATGACGGGC	0.662000													8	37					0	0	1	0	0
MT1G	4495	broad.mit.edu	37	16	56701237	56701237	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:56701237G>A	ENST00000568675.1	-	2	108	c.81C>T	c.(79-81)acC>acT	p.T27T	MT1G_ENST00000444837.2_Silent_p.T27T|MT1G_ENST00000569500.1_Intron|MT1G_ENST00000379811.3_Silent_p.T28T			P13640	MT1G_HUMAN	metallothionein 1G	28	Beta.						metal ion binding|protein binding			kidney(2)|large_intestine(1)|lung(2)	5						TCTTGCAGGAGGTGCATTTGC	0.572000													14	61					0	0	1	0	0
ETV1	2115	broad.mit.edu	37	7	13950919	13950919	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:13950919G>A	ENST00000343495.5	-	9	1500	c.762C>T	c.(760-762)tgC>tgT	p.C254C	ETV1_ENST00000405218.2_Silent_p.C272C|ETV1_ENST00000430479.1_Silent_p.C272C|ETV1_ENST00000405358.4_Silent_p.C286C|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403527.1_Silent_p.C232C|ETV1_ENST00000399357.3_Silent_p.C169C|ETV1_ENST00000420159.2_Silent_p.C214C|ETV1_ENST00000405192.2_Intron|ETV1_ENST00000242066.5_Silent_p.C254C|ETV1_ENST00000403685.1_Silent_p.C254C			P50549	ETV1_HUMAN	ets variant 1	272					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAATGGAGTGGCAGCTAGGCA	0.453000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								3	25					0	0	1	0	0
HOXC9	3225	broad.mit.edu	37	12	54394243	54394243	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:54394243C>T	ENST00000303450.4	+	1	341	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	HOXC9_ENST00000508190.1_Missense_Mutation_p.R91C|HOXC9_ENST00000504557.1_Intron	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	91					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						CGCCGACACGCGCTACATGCG	0.711000													4	29					0	0	1	0	0
METTL5	29081	broad.mit.edu	37	2	170677623	170677623	+	Missense_Mutation	SNP	A	A	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:170677623A>C	ENST00000410097.1	-	4	520	c.385T>G	c.(385-387)Ttt>Gtt	p.F129V	METTL5_ENST00000409837.1_Missense_Mutation_p.F129V|METTL5_ENST00000260953.5_Missense_Mutation_p.F129V|METTL5_ENST00000392640.2_Missense_Mutation_p.F129V|METTL5_ENST00000409340.1_Intron|METTL5_ENST00000308099.3_Missense_Mutation_p.F129V|METTL5_ENST00000409965.1_Missense_Mutation_p.F129V			Q9NRN9	METL5_HUMAN	methyltransferase like 5	129							methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						TTGGTCCCAAAGGGAGGATTC	0.333000													12	78					0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89864968	89864968	+	Splice_Site	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:89864968C>T	ENST00000268124.5	-	16	2930	c.2598_splice	c.e16+1	p.R866_splice	POLG_ENST00000442287.2_Splice_Site_p.R866_splice	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	866					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GTCACATACCCGGGCATTGCT	0.592000								DNA polymerases (catalytic subunits)					5	92					0	0	1	0	0
POC1B	282809	broad.mit.edu	37	12	89853465	89853465	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:89853465G>A	ENST00000393179.4	-	8	1286	c.673C>T	c.(673-675)Cag>Tag	p.Q225*	POC1B_ENST00000541909.1_3'UTR|POC1B_ENST00000378528.2_3'UTR|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000549035.1_Nonsense_Mutation_p.Q313*|POC1B_ENST00000546740.1_Intron|POC1B_ENST00000313546.3_Nonsense_Mutation_p.Q355*					POC1 centriolar protein B											endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						GTAGAGATCTGCAAATCGATT	0.299000													7	45					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29617581	29617581	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:29617581C>A	ENST00000318184.5	-	18	1983	c.1984G>T	c.(1984-1986)Gac>Tac	p.D662Y	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	662	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ATGTCAGAGTCATAACTTAGT	0.448000													14	75					4.3838e-07	4.85624e-07	1	1	0
S100A12	6283	broad.mit.edu	37	1	153346431	153346431	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:153346431T>A	ENST00000368737.3	-	3	268	c.151A>T	c.(151-153)Aaa>Taa	p.K51*		NM_005621.1	NP_005612.1	P80511	S10AC_HUMAN	S100 calcium binding protein A12	51	EF-hand 2.				defense response to bacterium|defense response to fungus|inflammatory response|innate immune response|killing of cells of other organism|positive regulation of I-kappaB kinase/NF-kappaB cascade|xenobiotic metabolic process	cytosol|extracellular region|insoluble fraction|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			endometrium(1)|kidney(1)|skin(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	ATGACAGCTTTATCTTTGATA	0.443000													23	115					0	0	1	0	0
ZNF669	79862	broad.mit.edu	37	1	247263869	247263869	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:247263869C>T	ENST00000343381.6	-	4	1374	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	ZNF669_ENST00000448299.2_Missense_Mutation_p.R315H|ZNF669_ENST00000358785.4_3'UTR	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GGAACTGAGGCGACTGAAGGC	0.433000													30	167					0	0	1	0	0
SPC24	147841	broad.mit.edu	37	19	11258792	11258792	+	Splice_Site	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:11258792G>A	ENST00000592540.1	-	3	338	c.305_splice	c.e3-1	p.Q103_splice		NM_182513.2	NP_872319.1	Q8NBT2	SPC24_HUMAN	SPC24, NDC80 kinetochore complex component	103	Interaction with the N-terminus of SPBC25.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	5						CTGGTGAGCTGAGTAGGGCAG	0.602000													5	17					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2227084	2227084	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:2227084G>A	ENST00000398665.3	+	27	4600	c.4564G>A	c.(4564-4566)Gcc>Acc	p.A1522T		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1522						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAACTCGCACGCCATGGGCAG	0.741000													4	10					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59212338	59212338	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:59212338G>T	ENST00000262717.4	+	10	2007	c.1609G>T	c.(1609-1611)Gct>Tct	p.A537S	CDH20_ENST00000538374.1_Missense_Mutation_p.A537S|CDH20_ENST00000536675.2_Missense_Mutation_p.A537S			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	537	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A537T(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GGCTCCTGAGGCTGCTAACAA	0.502000													11	116					0.0135373	0.0138346	1	1	0
ZNF592	9640	broad.mit.edu	37	15	85342390	85342390	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:85342390G>A	ENST00000299927.3	+	6	3108	c.3086G>A	c.(3085-3087)cGc>cAc	p.R1029H	ZNF592_ENST00000560079.2_Missense_Mutation_p.R1029H			Q92610	ZN592_HUMAN	zinc finger protein 592	1029					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R1029L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AACAGCCTGCGCAAACACATC	0.527000													49	167					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145162441	145162441	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:145162441C>T	ENST00000558170.2	-	5	1738	c.554G>A	c.(553-555)cGc>cAc	p.R185H	ZEB2_ENST00000539609.3_Missense_Mutation_p.R161H|ZEB2_ENST00000409487.3_Missense_Mutation_p.R185H|ZEB2_ENST00000303660.4_Missense_Mutation_p.R185H	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	185						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CGTGCCAAGGCGAGACAGCTC	0.507000													8	27					0	0	1	0	0
FBXO15	201456	broad.mit.edu	37	18	71797722	71797722	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:71797722G>A	ENST00000269500.5	-	4	611	c.276C>T	c.(274-276)gcC>gcT	p.A92A	FBXO15_ENST00000419743.2_Silent_p.A168A	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	92										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		CAGCTAGTGCGGCTTTTACAG	0.413000													19	64					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15655741	15655741	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:15655741C>T	ENST00000378076.3	-	15	1824	c.1471G>A	c.(1471-1473)Gcc>Acc	p.A491T		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	491					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AGAAGCTGGGCATCTACAGTC	0.478000													7	115					0	0	1	0	0
TCEAL6	158931	broad.mit.edu	37	X	101396215	101396215	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:101396215G>A	ENST00000372774.3	-	3	338	c.89C>T	c.(88-90)tCa>tTa	p.S30L	TCEAL6_ENST00000372773.1_Missense_Mutation_p.S30L	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	30	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						ttcctcgtctgactttccttc	0.478000													9	25					0	0	1	0	0
MLLT6	4302	broad.mit.edu	37	17	36864105	36864105	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:36864105C>T	ENST00000325718.7	+	4	425	c.334C>T	c.(334-336)Cct>Tct	p.P112S	MLLT6_ENST00000378137.5_Missense_Mutation_p.P112S	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	112					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GCAGTACGTGCCTCATGATCG	0.602000			T	MLL	AL								7	12					0	0	1	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99757730	99757730	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:99757730G>A	ENST00000360039.4	-	4	1674	c.1282C>T	c.(1282-1284)Cag>Tag	p.Q428*	GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000413800.1_Nonsense_Mutation_p.Q428*|GAL3ST4_ENST00000426974.2_Nonsense_Mutation_p.Q366*	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	428					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GACCCAAACTGGAAGGGGCGG	0.572000													6	119					0	0	1	0	0
TMTC1	83857	broad.mit.edu	37	12	29689150	29689150	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:29689150C>G	ENST00000256062.5	-	11	1926	c.1453G>C	c.(1453-1455)Gct>Cct	p.A485P	TMTC1_ENST00000552618.1_Missense_Mutation_p.A617P|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Missense_Mutation_p.A655P|TMTC1_ENST00000381224.2_Missense_Mutation_p.A547P|TMTC1_ENST00000539277.1_Missense_Mutation_p.A593P	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	593						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					ACCTGCTCAGCCAATAACGAA	0.333000													15	98					0	0	1	0	0
TMEM71	137835	broad.mit.edu	37	8	133764240	133764240	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:133764240G>A	ENST00000356838.3	-	4	247	c.105C>T	c.(103-105)ttC>ttT	p.F35F	TMEM71_ENST00000377901.4_Silent_p.F35F|TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000523829.1_Silent_p.F35F	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	35						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AATCACAGGTGAAACTAAGAA	0.438000													6	45					0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220167311	220167311	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:220167311T>C	ENST00000295718.2	-	5	866	c.626A>G	c.(625-627)tAc>tGc	p.Y209C	PTPRN_ENST00000409251.3_Missense_Mutation_p.Y209C|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.Y119C	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	209					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GTGGAACAGGTAGGGCTGCAG	0.602000													20	81					0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202611433	202611433	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:202611433G>A	ENST00000264276.6	-	9	2226	c.1854C>T	c.(1852-1854)ggC>ggT	p.G618G		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	618					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AATAATCCCTGCCTGCAGCTA	0.468000													25	196					0	0	1	0	0
ACVR1	90	broad.mit.edu	37	2	158622628	158622628	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:158622628A>G	ENST00000263640.3	-	8	1300	c.871T>C	c.(871-873)Ttg>Ctg	p.L291L	ACVR1_ENST00000409283.2_Silent_p.L291L|ACVR1_ENST00000434821.1_Silent_p.L291L|ACVR1_ENST00000410057.2_Silent_p.L291L	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	291	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	TAGTCGTACAACGATCCCATT	0.413000													6	84					0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11896120	11896120	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:11896120C>T	ENST00000346436.6	+	18	1942	c.1890C>T	c.(1888-1890)caC>caT	p.H630H	CLCN6_ENST00000376496.3_Silent_p.H630H|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Silent_p.H608H	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	630	CBS 1.				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCACGGTCCACCATGCCTTCC	0.562000													3	40					0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62751968	62751968	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:62751968G>A	ENST00000377871.3	-	1	461	c.195C>T	c.(193-195)gtC>gtT	p.V65V	SLC22A6_ENST00000421062.2_Silent_p.V65V|SLC22A6_ENST00000458333.2_Silent_p.V65V|SLC22A6_ENST00000360421.4_Silent_p.V65V	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	65					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGGGCAGCCAGACCTCCAGCC	0.647000													15	53					0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233518218	233518218	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:233518218C>T	ENST00000366624.3	+	10	3133	c.2872C>T	c.(2872-2874)Cag>Tag	p.Q958*	MLK4_ENST00000366622.1_Nonsense_Mutation_p.Q404*	NM_032435.2	NP_115811.2																					AGATCTGCCTCAGGCTTACCC	0.607000													6	87					0	0	1	0	0
TTC5	91875	broad.mit.edu	37	14	20767468	20767468	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:20767468C>T	ENST00000258821.3	-	4	592	c.536G>A	c.(535-537)gGc>gAc	p.G179D		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	179					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CCAGGAGCGGCCATCATGGAC	0.478000													5	62					0	0	1	0	0
SOCS7	30837	broad.mit.edu	37	17	36520738	36520738	+	Splice_Site	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:36520738A>G	ENST00000577233.1	+	3	957	c.958_splice	c.e3+1	p.L319_splice	SOCS7_ENST00000331159.5_Splice_Site_p.L319_splice	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	319	Mediates interaction with SORBS3.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					TCAGCCTCCTAGGTATAGTTT	0.577000													6	63					0	0	1	0	0
NSRP1	84081	broad.mit.edu	37	17	28445171	28445171	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:28445171G>A	ENST00000247026.5	+	2	157	c.94G>A	c.(94-96)Gat>Aat	p.D32N	NSRP1_ENST00000540900.3_Intron|NSRP1_ENST00000584423.1_Missense_Mutation_p.D32N|NSRP1_ENST00000479218.2_Silent_p.*42*	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	32	Poly-Asp.				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						GTTTGGGAATGATTCTGATGA	0.338000													8	102					0	0	1	0	0
ERC1	23085	broad.mit.edu	37	12	1345970	1345970	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:1345970T>C	ENST00000397203.2	+	13	2793	c.2387T>C	c.(2386-2388)cTg>cCg	p.L796P	ERC1_ENST00000589028.1_Missense_Mutation_p.L796P|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Missense_Mutation_p.L796P|ERC1_ENST00000543086.3_Missense_Mutation_p.L768P|ERC1_ENST00000546231.2_Missense_Mutation_p.L800P|ERC1_ENST00000355446.5_Missense_Mutation_p.L796P			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	796					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GTAGCAAATCTGAAGCACAAG	0.413000													17	41					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197070641	197070641	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:197070641T>C	ENST00000367409.4	-	18	7996	c.7740A>G	c.(7738-7740)acA>acG	p.T2580T	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2580					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTATGATTTTTGTAGCCCACT	0.338000													9	45					0	0	1	0	0
AP3M2	10947	broad.mit.edu	37	8	42023071	42023071	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:42023071G>A	ENST00000518421.1	+	7	1087	c.796G>A	c.(796-798)Gca>Aca	p.A266T	AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000517922.1_Missense_Mutation_p.A266T|AP3M2_ENST00000396926.3_Missense_Mutation_p.A266T|AP3M2_ENST00000174653.3_Missense_Mutation_p.A266T	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	266	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			CCATGTCAGTGCACAGAAGTA	0.453000													19	130					0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233759611	233759611	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:233759611C>A	ENST00000264051.3	-	6	1122	c.844G>T	c.(844-846)Gtc>Ttc	p.V282F	NGEF_ENST00000409079.1_Missense_Mutation_p.V190F|NGEF_ENST00000373552.4_Missense_Mutation_p.V190F|NGEF_ENST00000539537.1_Missense_Mutation_p.V5F	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	282	DH.				apoptosis|cell differentiation|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	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TCGGAAGTGACCAGCTCGAAC	0.592000													26	90					1.17739e-12	1.38961e-12	1	1	0
ADCY5	111	broad.mit.edu	37	3	123166724	123166724	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:123166724C>T	ENST00000462833.1	-	1	1881	c.669G>A	c.(667-669)tcG>tcA	p.S223S		NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	223					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CCAGTTTGTCCGACGGGAACT	0.667000													4	25					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934614	30934614	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:30934614G>A	ENST00000355537.3	+	2	292	c.145G>A	c.(145-147)Gag>Aag	p.E49K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.E49K(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGCCTTCCCCGAGCTCCATCC	0.667000													29	94					0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157771252	157771252	+	Splice_Site	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:157771252T>C	ENST00000368176.3	-	6	1069	c.1003_splice	c.e6+1	p.I334_splice	FCRL1_ENST00000358292.3_Intron|FCRL1_ENST00000491942.1_Splice_Site_p.I334_splice|FCRL1_ENST00000489998.1_Intron	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	334						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AATACTAACCTATTTTTCTTT	0.408000													17	71					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48573373	48573373	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:48573373A>G	ENST00000590722.2	+	3	345	c.241A>G	c.(241-243)Aga>Gga	p.R81G	SMAD4_ENST00000342988.3_5'UTR|RP11-729L2.2_ENST00000588256.1_3'UTR|SMAD4_ENST00000452201.2_5'UTR|SMAD4_ENST00000398417.2_5'UTR																							AAATTGCTTCAGAAATTGGAG	0.313000													5	28					0	0	1	0	0
SOCS2	8835	broad.mit.edu	37	12	93968690	93968690	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:93968690G>A	ENST00000340600.2	+	3	930	c.332G>A	c.(331-333)tGt>tAt	p.C111Y	SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000549122.1_Missense_Mutation_p.C111Y|SOCS2_ENST00000549206.1_Missense_Mutation_p.C111Y|SOCS2_ENST00000536696.2_Missense_Mutation_p.C111Y|SOCS2_ENST00000551556.1_Missense_Mutation_p.C111Y	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	111	SH2.				anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						TCTATCATATGTGTCAAATCC	0.418000													12	82					0	0	1	0	0
HLX	3142	broad.mit.edu	37	1	221058024	221058024	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:221058024A>T	ENST00000366903.6	+	4	2946	c.1445A>T	c.(1444-1446)cAa>cTa	p.Q482L	HLX_ENST00000549319.1_Missense_Mutation_p.Q268L	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	482					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		GAGCCAGCCCAAGGCGCGCTT	0.657000													15	19					0	0	1	0	0
MS4A3	932	broad.mit.edu	37	11	59837059	59837059	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:59837059C>T	ENST00000278865.3	+	6	599	c.526C>T	c.(526-528)Cta>Tta	p.L176L	MS4A3_ENST00000358152.2_Silent_p.L130L|MS4A3_ENST00000395032.2_Silent_p.L53L|MS4A3_ENST00000534744.1_Silent_p.L130L	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	176						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CATGGTGTCTCTACTGCTGAT	0.428000													12	165					0	0	1	0	0
AADACL2	344752	broad.mit.edu	37	3	151461908	151461908	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:151461908G>A	ENST00000356517.3	+	3	498	c.389G>A	c.(388-390)aGa>aAa	p.R130K		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	130						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTCCTGAATAGATGGACGGCA	0.358000													19	69					0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243329202	243329202	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:243329202T>C	ENST00000366542.1	-	13	2111	c.2060A>G	c.(2059-2061)tAc>tGc	p.Y687C	CEP170_ENST00000366543.1_Missense_Mutation_p.Y589C|CEP170_ENST00000366544.1_Missense_Mutation_p.Y589C|RP11-261C10.4_ENST00000437499.1_RNA|RP11-261C10.4_ENST00000422938.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	687						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			ATCTTTCTGGTATACCTGTGT	0.413000													15	87					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56659049	56659049	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:56659049C>T	ENST00000389934.3	-	20	3331	c.3214G>A	c.(3214-3216)Gat>Aat	p.D1072N	TEX14_ENST00000240361.8_Missense_Mutation_p.D1078N|TEX14_ENST00000349033.5_Intron	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1078						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTGTTATATCCTCAGAAGAC	0.363000													9	88					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140223345	140223345	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:140223345A>T	ENST00000378123.3	+	1	2439	c.2439A>T	c.(2437-2439)aaA>aaT	p.K813N	PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_031856.1	NP_114062.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTGTGGAAATTGTAGTTAC	0.269000													4	43					0	0	1	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68780416	68780416	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:68780416C>A	ENST00000508048.1	-	9	1017	c.982G>T	c.(982-984)Gtg>Ttg	p.V328L	RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.V329L|TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.V332L			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	332	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						ATGATTTTCACTCTGGCTTCT	0.393000													12	109					0.000978159	0.00101669	1	1	0
RSPH3	83861	broad.mit.edu	37	6	159403600	159403600	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:159403600G>A	ENST00000367069.2	-	5	1249	c.613C>T	c.(613-615)Cgt>Tgt	p.R205C	RSPH3_ENST00000252655.1_Missense_Mutation_p.R347C|RSPH3_ENST00000449822.1_Missense_Mutation_p.R109C|RSPH3_ENST00000297262.3_Missense_Mutation_p.R251C			Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	347										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		TCATACTCACGCTGACTGGCC	0.428000													4	59					0	0	1	0	0
RBM23	55147	broad.mit.edu	37	14	23374088	23374088	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:23374088C>T	ENST00000359890.3	-	9	1055	c.860G>A	c.(859-861)gGt>gAt	p.G287D	RBM23_ENST00000555209.1_Missense_Mutation_p.G37D|RBM23_ENST00000399922.2_Missense_Mutation_p.G271D|RBM23_ENST00000542016.2_Missense_Mutation_p.G117D|RBM23_ENST00000346528.5_Missense_Mutation_p.G253D	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	287	RRM 2.				mRNA processing	nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		ACTCACTTTACCAAAGGGCTC	0.493000													12	245					0	0	1	0	0
BCL2L13	23786	broad.mit.edu	37	22	18185106	18185106	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr22:18185106A>G	ENST00000317582.5	+	6	901	c.554A>G	c.(553-555)tAc>tGc	p.Y185C	BCL2L13_ENST00000399782.1_Missense_Mutation_p.Y185C|BCL2L13_ENST00000337612.5_Missense_Mutation_p.Y23C|BCL2L13_ENST00000493680.1_Missense_Mutation_p.Y185C|BCL2L13_ENST00000538149.1_Missense_Mutation_p.Y61C|BCL2L13_ENST00000355028.3_Intron|BCL2L13_ENST00000543133.1_Missense_Mutation_p.Y23C|BCL2L13_ENST00000418951.2_Intron	NM_015367.2	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	185					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		GGCGTGACATACCTGGAGGAC	0.408000													19	68					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94750307	94750307	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:94750307G>T	ENST00000554723.1	-	5	1868	c.1450C>A	c.(1450-1452)Cta>Ata	p.L484I	SERPINA10_ENST00000554173.1_Missense_Mutation_p.L444I|SERPINA10_ENST00000393096.1_Missense_Mutation_p.L444I|SERPINA10_ENST00000261994.4_Missense_Mutation_p.L444I			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	444					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CTGAATTATAGGAGAGTCGGA	0.478000													10	78					2.17888e-05	2.35468e-05	1	1	0
GCC2	9648	broad.mit.edu	37	2	109086638	109086638	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:109086638G>C	ENST00000309863.6	+	6	1567	c.853G>C	c.(853-855)Gag>Cag	p.E285Q	GCC2_ENST00000485546.1_3'UTR	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	285					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAAACAATGTGAGGCAAGTGA	0.358000													7	160					0	0	1	0	0
SCGB1D2	10647	broad.mit.edu	37	11	62010909	62010909	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:62010909G>C	ENST00000244926.3	+	2	302	c.204G>C	c.(202-204)caG>caC	p.Q68H	RP11-703H8.9_ENST00000529875.1_RNA	NM_006551.3	NP_006542.1	O95969	SG1D2_HUMAN	secretoglobin, family 1D, member 2	68						extracellular space	binding			breast(1)|endometrium(1)|lung(1)	3						GCACGGATCAGATGTCCCTTC	0.458000													28	102					0	0	1	0	0
LHX9	56956	broad.mit.edu	37	1	197890513	197890513	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:197890513G>A	ENST00000367390.3	+	4	457	c.430G>A	c.(430-432)Gtc>Atc	p.V144I	LHX9_ENST00000367391.1_Missense_Mutation_p.V144I|LHX9_ENST00000367387.4_Missense_Mutation_p.V153I|LHX9_ENST00000337020.2_Missense_Mutation_p.V153I|LHX9_ENST00000561173.1_Missense_Mutation_p.V159I	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	153	LIM zinc-binding 2.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CCGAGACTCTGTCTACCACCT	0.587000													23	76					0	0	1	0	0
RNF219	79596	broad.mit.edu	37	13	79191205	79191205	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr13:79191205G>A	ENST00000282003.6	-	6	749	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	231							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TTGGTTTCACGCTCATACTGT	0.378000													19	59					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98248007	98248007	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:98248007C>T	ENST00000430669.2	-	3	931	c.346G>A	c.(346-348)Gca>Aca	p.A116T	PTCH1_ENST00000429896.2_Missense_Mutation_p.A31T|PTCH1_ENST00000437951.1_Missense_Mutation_p.A116T|PTCH1_ENST00000418258.1_Missense_Mutation_p.A31T|PTCH1_ENST00000468211.2_Missense_Mutation_p.A116T|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000421141.1_Missense_Mutation_p.A31T|PTCH1_ENST00000331920.6_Missense_Mutation_p.A182T|PTCH1_ENST00000375274.2_Missense_Mutation_p.A181T			Q13635	PTC1_HUMAN	patched 1	182					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GCCTGGAGTGCCGAGTCCAGG	0.532000													37	125					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27481437	27481437	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:27481437G>A	ENST00000356183.4	-	31	4821	c.4806C>T	c.(4804-4806)gtC>gtT	p.V1602V	GTF3C1_ENST00000561623.1_Silent_p.V1602V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1602						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ACCTTTTGATGACCTCATTCT	0.572000													42	174					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65907073	65907073	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:65907073G>C	ENST00000321892.4	+	13	3512	c.3451G>C	c.(3451-3453)Gag>Cag	p.E1151Q	BPTF_ENST00000424123.3_Missense_Mutation_p.E1012Q|BPTF_ENST00000335221.5_Missense_Mutation_p.E1151Q|BPTF_ENST00000306378.6_Missense_Mutation_p.E1025Q			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1151					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CATGAAAACAGAGTCACATGT	0.373000													8	43					0	0	1	0	0
PIP4K2A	5305	broad.mit.edu	37	10	22830826	22830826	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:22830826C>G	ENST00000376573.4	-	8	1171	c.943G>C	c.(943-945)Gat>Cat	p.D315H	PIP4K2A_ENST00000323883.7_Missense_Mutation_p.D175H|PIP4K2A_ENST00000545335.1_Missense_Mutation_p.D256H	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	315	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CCGGGGCTATCTGGGGGGGTT	0.582000													33	88					0	0	1	0	0
TTC21B	79809	broad.mit.edu	37	2	166797546	166797546	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:166797546G>A	ENST00000243344.7	-	6	838	c.701C>T	c.(700-702)aCa>aTa	p.T234I	AC010127.5_ENST00000443032.1_RNA|AC010127.5_ENST00000440322.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	234						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CCTTTGTGCTGTCTCAACTGT	0.358000													14	54					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176096	140176096	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:140176096A>T	ENST00000526136.1	+	1	1547	c.1547A>T	c.(1546-1548)aAg>aTg	p.K516M	PCDHA2_ENST00000378132.1_Missense_Mutation_p.K516M|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.K516M	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAGCGGCAAGGTGTACGCG	0.697000													24	116					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554653	140554653	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:140554653G>A	ENST00000231137.3	+	1	2411	c.2237G>A	c.(2236-2238)aGc>aAc	p.S746N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		746					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTATCCCAGAGCTACCAGTAT	0.612000													24	244					0	0	1	0	0
TTLL11	158135	broad.mit.edu	37	9	124801587	124801587	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:124801587T>C	ENST00000321582.5	-	2	980	c.793A>G	c.(793-795)Aat>Gat	p.N265D	TTLL11_ENST00000373776.3_Missense_Mutation_p.N265D|TTLL11_ENST00000474723.1_5'UTR	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	265	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						AATATGTCATTGTCGTGAAAT	0.413000													9	70					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941438	22941438	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:22941438A>T	ENST00000397104.3	-	5	999	c.1000T>A	c.(1000-1002)Tgc>Agc	p.C334S	ZNF99_ENST00000596209.1_Missense_Mutation_p.C425S					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCACATTTGCAGGGTTTCTCT	0.373000													10	40					0	0	1	0	0
GUSBP1	728411	broad.mit.edu	37	5	21497235	21497235	+	RNA	SNP	C	C	T	rs141635554	by1000genomes	TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:21497235C>T	ENST00000607545.1	+	0	179					NR_027026.1																						AGTTTGAGAACTGGTGTAAGA	0.488000													4	30					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48753301	48753301	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:48753301G>A	ENST00000285238.8	+	22	2997	c.2917G>A	c.(2917-2919)Gcc>Acc	p.A973T	ABCC3_ENST00000510891.1_3'UTR	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	973	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TACCACGCTGGCCATCTGTCT	0.567000													7	53					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46585619	46585619	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr13:46585619T>C	ENST00000242848.4	-	6	867	c.519A>G	c.(517-519)atA>atG	p.I173M	ZC3H13_ENST00000282007.3_Missense_Mutation_p.I173M|ZC3H13_ENST00000470308.1_5'UTR			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	173							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ATTCCCTCTGTATCTTCTGAC	0.289000													7	78					0	0	1	0	0
SEMA6B	10501	broad.mit.edu	37	19	4550271	4550271	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:4550271C>T	ENST00000586582.1	-	12	1445	c.1135G>A	c.(1135-1137)Gca>Aca	p.A379T	SEMA6B_ENST00000301293.3_Missense_Mutation_p.A379T|SEMA6B_ENST00000586965.1_Missense_Mutation_p.A379T	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	379	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGGGCTGCGCAGCACCCG	0.602000													7	55					0	0	1	0	0
UNK	85451	broad.mit.edu	37	17	73780837	73780837	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:73780837C>A	ENST00000293218.3	+	2	104	c.104C>A	c.(103-105)aCc>aAc	p.T35N	H3F3B_ENST00000586607.1_Intron			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	0							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCCCAGCAACCCCTGCTGCC	0.612000													5	23					0.000602214	0.000628893	1	1	0
VPS52	6293	broad.mit.edu	37	6	33237776	33237776	+	Splice_Site	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:33237776C>T	ENST00000445902.2	-	3	446	c.228_splice	c.e3+1	p.T76_splice	VPS52_ENST00000482399.1_Intron|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	76					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AAAGCCTCACCGTTTTAAGAG	0.438000													23	116					0	0	1	0	0
KLK12	43849	broad.mit.edu	37	19	51532654	51532654	+	Silent	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:51532654C>A	ENST00000250352.11	-	5	994	c.321G>T	c.(319-321)ggG>ggT	p.G107G	KLK12_ENST00000529888.1_3'UTR|KLK12_ENST00000525263.1_Silent_p.G217G|KLK12_ENST00000250351.4_Silent_p.G217G|KLK12_ENST00000319590.4_Silent_p.G217G			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	217	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		GCCCCACAGACCCCCAGGACA	0.552000													21	88					7.45023e-12	8.74054e-12	1	1	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374324	95374324	+	RNA	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:95374324A>T	ENST00000494840.1	-	0	1537					NR_077228.1																						TTTCCCACACACCCCATGGGG	0.433000													18	71					0	0	1	0	0
OGFOD3	79701	broad.mit.edu	37	17	80352267	80352267	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:80352267C>G	ENST00000329197.5	-	9	1066	c.976G>C	c.(976-978)Gag>Cag	p.E326Q	OGFOD3_ENST00000313056.5_Intron					2-oxoglutarate and iron-dependent oxygenase domain containing 3																		GCAATGCTCTCAGCTTCCAGA	0.512000													46	206					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24799137	24799137	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:24799137C>T	ENST00000310677.4	-	9	1259	c.1146G>A	c.(1144-1146)caG>caA	p.Q382Q	ADCY4_ENST00000554068.2_Silent_p.Q382Q|ADCY4_ENST00000418030.2_Silent_p.Q382Q|ADCY4_ENST00000396747.3_Silent_p.Q75Q	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	382					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ACTGCCACTTCTGCAGCCCGA	0.592000													22	103					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32211099	32211099	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr22:32211099G>A	ENST00000400246.1	+	21	1709	c.1567G>A	c.(1567-1569)Gac>Aac	p.D523N	DEPDC5_ENST00000400242.3_Missense_Mutation_p.D523N|DEPDC5_ENST00000536766.1_Missense_Mutation_p.D495N|DEPDC5_ENST00000535622.1_Missense_Mutation_p.D523N|DEPDC5_ENST00000400248.1_Missense_Mutation_p.D523N|DEPDC5_ENST00000400249.2_Missense_Mutation_p.D523N|DEPDC5_ENST00000382105.2_Missense_Mutation_p.D523N|DEPDC5_ENST00000382111.2_Missense_Mutation_p.D523N|DEPDC5_ENST00000382112.3_Missense_Mutation_p.D523N|DEPDC5_ENST00000266091.3_Missense_Mutation_p.D523N			O75140	DEPD5_HUMAN	DEP domain containing 5	523					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						GGCTTCTGACGACAGCTCCCT	0.572000													10	117					0	0	1	0	0
KIAA0930	23313	broad.mit.edu	37	22	45598964	45598964	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr22:45598964G>A	ENST00000336156.4	-	7	824	c.759C>T	c.(757-759)caC>caT	p.H253H	KIAA0930_ENST00000443310.3_Silent_p.H235H|KIAA0930_ENST00000251993.7_Silent_p.H258H|KIAA0930_ENST00000391627.2_Silent_p.H219H	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	253							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						CCATCTCGGCGTGGCCCTTGC	0.617000													17	181					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3640876	3640876	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:3640876C>T	ENST00000294008.3	-	12	3403	c.2763G>A	c.(2761-2763)gaG>gaA	p.E921E		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	921	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GTCCCATCTTCTCCCAGGTGG	0.667000								Direct reversal of damage					11	160					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47801718	47801718	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr21:47801718C>T	ENST00000359568.5	+	16	3382	c.3275C>T	c.(3274-3276)tCt>tTt	p.S1092F	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1092					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GAGTCTTTGTCTCTGCAGCTT	0.428000													19	156					0	0	1	0	0
ZBTB17	7709	broad.mit.edu	37	1	16268580	16268580	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:16268580C>A	ENST00000375733.2	-	16	2555	c.2317G>T	c.(2317-2319)Ggg>Tgg	p.G773W	ZBTB17_ENST00000537142.1_Missense_Mutation_p.G684W|ZBTB17_ENST00000375743.4_Missense_Mutation_p.G766W			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	766	Interaction with HCFC1.				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		AGCACCTGCCCGGCAGGCCAC	0.657000													7	64					0.000274275	0.000287956	1	1	0
ZNF691	51058	broad.mit.edu	37	1	43317473	43317473	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:43317473G>C	ENST00000372504.1	+	5	1260	c.910G>C	c.(910-912)Gat>Cat	p.D304H	ZNF691_ENST00000372506.1_Missense_Mutation_p.D282H|ZNF691_ENST00000397044.3_Missense_Mutation_p.D313H|ZNF691_ENST00000372508.3_Missense_Mutation_p.D282H|ZNF691_ENST00000372507.1_Missense_Mutation_p.D282H|ZNF691_ENST00000372502.1_Missense_Mutation_p.D304H			Q5VV52	ZN691_HUMAN	zinc finger protein 691	145						nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCTGGGAAAGATTCCAGCTG	0.527000													6	42					0	0	1	0	0
SEMA4F	10505	broad.mit.edu	37	2	74902472	74902472	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:74902472C>T	ENST00000357877.2	+	10	1482	c.1333C>T	c.(1333-1335)Ctc>Ttc	p.L445F	SEMA4F_ENST00000339773.5_Missense_Mutation_p.L290F|SEMA4F_ENST00000473350.1_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	445	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GGTGACCAGCCTCTCAGGGAA	0.542000											OREG0014721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	29					0	0	1	0	0
SELM	140606	broad.mit.edu	37	22	31501028	31501028	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr22:31501028C>T	ENST00000402395.1	-	7	783	c.366G>A	c.(364-366)gcG>gcA	p.A122A	RP3-412A9.11_ENST00000465536.1_5'UTR|RP3-412A9.11_ENST00000400299.2_Silent_p.A122A																							GGGGCACCTGCGCGTCGGGCG	0.682000													5	43					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38942936	38942936	+	Splice_Site	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:38942936T>C	ENST00000357387.3	-	37	5081	c.5052_splice	c.e37+1	p.Q1684_splice	RICTOR_ENST00000296782.5_Splice_Site_p.Q1708_splice	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1684					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CATACTTACTTGTAGAAACTG	0.363000													4	44					0	0	1	0	0
STAMBPL1	57559	broad.mit.edu	37	10	90672978	90672978	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:90672978G>A	ENST00000371927.3	+	6	1499	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	STAMBPL1_ENST00000371926.3_Missense_Mutation_p.E181K|STAMBPL1_ENST00000371922.1_Missense_Mutation_p.E15K|STAMBPL1_ENST00000371924.1_Missense_Mutation_p.E181K			Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	181							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TCTGTTTTTCGAAGATCAACT	0.483000													22	62					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33616027	33616027	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:33616027T>C	ENST00000504830.1	-	15	2629	c.2294A>G	c.(2293-2295)tAt>tGt	p.Y765C	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Y680C|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	765	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGCCAGCTTATAGTTCCCGTT	0.473000										HNSCC(64;0.19)			34	114					0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154626396	154626396	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:154626396A>G	ENST00000260010.6	+	1	3745	c.2337A>G	c.(2335-2337)agA>agG	p.R779R		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	779	TIR.				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TAAATCTGAGAGCTGCGATAA	0.448000													9	76					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99006144	99006144	+	Missense_Mutation	SNP	C	C	T	rs138934573	byFrequency	TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:99006144C>T	ENST00000393504.1	+	6	890	c.473C>T	c.(472-474)gCg>gTg	p.A158V	CNGA3_ENST00000436404.2_Missense_Mutation_p.A140V|CNGA3_ENST00000409937.1_Missense_Mutation_p.A162V|CNGA3_ENST00000272602.2_Missense_Mutation_p.A158V	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	158					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						AAGAAGGATGCGATCGTGGTG	0.527000													43	136					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12125447	12125447	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:12125447C>T	ENST00000379388.2	+	4	5751	c.5419C>T	c.(5419-5421)Ccc>Tcc	p.P1807S		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1807					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TACTACAGAGCCCCTGGACGG	0.393000													9	211					0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113832251	113832251	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:113832251C>T	ENST00000337569.3	+	3	145	c.70C>T	c.(70-72)Caa>Taa	p.Q24*	IL1F10_ENST00000341010.2_Intron|IL1F10_ENST00000393197.2_Intron			Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	24						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						CAAGAGCCTGCAACATGGGGT	0.577000													17	172					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	169099029	169099029	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:169099029C>T	ENST00000494292.1	-	2	418	c.321G>A	c.(319-321)ggG>ggA	p.G107G	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	107							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CCACATAAGGCCCAAACTTTT	0.438000													15	110					0	0	1	0	0
NFIB	4781	broad.mit.edu	37	9	14146701	14146701	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:14146701G>A	ENST00000380959.3	-	6	1385	c.912C>T	c.(910-912)caC>caT	p.H304H	NFIB_ENST00000397581.2_Silent_p.H304H|NFIB_ENST00000380924.1_Silent_p.H52H|NFIB_ENST00000397575.3_Silent_p.H304H|NFIB_ENST00000380934.4_Silent_p.H330H|NFIB_ENST00000543693.1_Silent_p.H52H|NFIB_ENST00000380953.1_Silent_p.H304H|NFIB_ENST00000397579.2_Silent_p.H304H	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	304					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GATCTCTTTCGTGCCATGTTC	0.403000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								14	79					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228128534	228128534	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:228128534C>T	ENST00000396578.3	+	21	1351	c.1189C>T	c.(1189-1191)Cca>Tca	p.P397S	AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	397	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CCCTGGATGGCCAGGCCTGAA	0.493000													16	31					0	0	1	0	0
PSMD1	5707	broad.mit.edu	37	2	231948463	231948463	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:231948463C>T	ENST00000308696.6	+	14	1870	c.1708C>T	c.(1708-1710)Ctc>Ttc	p.L570F	PSMD1_ENST00000409643.1_Missense_Mutation_p.L570F|PSMD1_ENST00000373635.4_Missense_Mutation_p.L570F	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	570					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	CATTGAATCTCTCTGTCGTGA	0.423000													14	40					0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74593143	74593143	+	Silent	SNP	A	A	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:74593143A>C	ENST00000361874.3	-	24	3080	c.2763T>G	c.(2761-2763)ccT>ccG	p.P921P	DCTN1_ENST00000407639.2_Silent_p.P787P|DCTN1_ENST00000409438.1_Silent_p.P787P|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409567.3_Silent_p.P901P|DCTN1_ENST00000409240.1_Silent_p.P884P|DCTN1_ENST00000409868.1_Silent_p.P904P|DCTN1_ENST00000394003.3_Silent_p.P914P	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	921					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CAACCGGTGGAGGCTAAGGAA	0.527000													9	103					0	0	1	0	0
ADPRH	141	broad.mit.edu	37	3	119301279	119301279	+	Missense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:119301279A>T	ENST00000478399.1	+	2	1668	c.263A>T	c.(262-264)cAa>cTa	p.Q88L	ADPRH_ENST00000357003.3_Missense_Mutation_p.Q88L|ADPRH_ENST00000478927.1_Missense_Mutation_p.Q88L|ADPRH_ENST00000471850.1_Intron|ADPRH_ENST00000465513.1_Missense_Mutation_p.Q88L			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	88					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		AAGCATTACCAAGACTGCATG	0.512000													18	70					0	0	1	0	0
CEP44	80817	broad.mit.edu	37	4	175237324	175237324	+	Missense_Mutation	SNP	A	A	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:175237324A>C	ENST00000503780.1	+	10	1383	c.969A>C	c.(967-969)aaA>aaC	p.K323N	CEP44_ENST00000457424.2_Missense_Mutation_p.K323N|CEP44_ENST00000296519.4_Missense_Mutation_p.K323N|CEP44_ENST00000426172.1_Missense_Mutation_p.K323N	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	323						centrosome|midbody|spindle pole				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						CAGACAGAAAAAGCGAAGTAG	0.358000													6	63					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111156284	111156284	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr13:111156284G>A	ENST00000360467.5	+	44	4535	c.4229G>A	c.(4228-4230)cGa>cAa	p.R1410Q	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1410	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CAGGGGAGGCGAGGCCCCCCT	0.731000													4	45					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82450947	82450947	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:82450947G>C	ENST00000370728.1	+	23	4049	c.3404G>C	c.(3403-3405)cGt>cCt	p.R1135P	LPHN2_ENST00000370723.1_Missense_Mutation_p.R1137P|LPHN2_ENST00000394879.1_Missense_Mutation_p.R1137P|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.R1122P|LPHN2_ENST00000370715.1_Missense_Mutation_p.R1122P|LPHN2_ENST00000370730.1_Missense_Mutation_p.R1135P|LPHN2_ENST00000335786.5_Missense_Mutation_p.R1135P|LPHN2_ENST00000370725.1_Missense_Mutation_p.R1150P|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000359929.3_Missense_Mutation_p.R1122P|LPHN2_ENST00000370727.1_Missense_Mutation_p.R1150P|LPHN2_ENST00000370717.2_Missense_Mutation_p.R1150P|LPHN2_ENST00000271029.4_Missense_Mutation_p.R1150P|LPHN2_ENST00000370721.1_Missense_Mutation_p.R1060P			O95490	LPHN2_HUMAN	latrophilin 2	1135					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TAATAGAGTCGTATAAGAAGA	0.323000													12	48					0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18882019	18882019	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:18882019T>C	ENST00000388995.6	-	5	1183	c.960A>G	c.(958-960)gaA>gaG	p.E320E	SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000345041.4_Silent_p.E320E|FAM83G_ENST00000585154.2_Silent_p.E320E|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395647.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	320										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CCGGCTCCGGTTCCTTCTCCA	0.602000													13	124					0	0	1	0	0
CD72	971	broad.mit.edu	37	9	35618040	35618040	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:35618040A>G	ENST00000396757.1	-	3	325	c.161T>C	c.(160-162)tTg>tCg	p.L54S	CD72_ENST00000378430.3_Missense_Mutation_p.L54S|CD72_ENST00000378431.1_Missense_Mutation_p.L54S|CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Missense_Mutation_p.L54S			P21854	CD72_HUMAN	CD72 molecule	54					axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGAAGAAGCCAAGCTTGAGGG	0.537000													72	277					0	0	1	0	0
CBWD2	150472	broad.mit.edu	37	2	114220047	114220047	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:114220047T>C	ENST00000433343.2	+	9	842	c.530T>C	c.(529-531)gTa>gCa	p.V177A	CBWD2_ENST00000259199.4_Missense_Mutation_p.V213A|CBWD2_ENST00000416503.2_Missense_Mutation_p.V213A			Q8IUF1	CBWD2_HUMAN	COBW domain containing 2	213							ATP binding|protein binding			endometrium(1)|lung(1)	2						GAAGAAGATGTAAAGAAATTA	0.333000													24	101					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8718561	8718561	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:8718561G>A	ENST00000359865.3	+	3	255	c.113G>A	c.(112-114)cGg>cAg	p.R38Q	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Missense_Mutation_p.R38Q|SOGA2_ENST00000306329.11_Missense_Mutation_p.R398Q|SOGA2_ENST00000400050.3_Missense_Mutation_p.R38Q	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	389																	TACCGTCTTCGGAAAGCCGAG	0.522000													16	80					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7796626	7796626	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:7796626C>T	ENST00000380358.4	+	5	710	c.709C>T	c.(709-711)Cct>Tct	p.P237S	CHD3_ENST00000358181.4_Missense_Mutation_p.P178S|CHD3_ENST00000330494.7_Missense_Mutation_p.P178S	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	178					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TAAGAAGAATCCTAAGATCCC	0.488000													7	22					0	0	1	0	0
FKBP9L	360132	broad.mit.edu	37	7	55755519	55755519	+	RNA	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:55755519C>A	ENST00000455909.1	-	0	487					NR_027340.1|NR_027342.1				FK506 binding protein 9-like											endometrium(1)|kidney(1)|lung(3)	5						GATCACTGTCCGTTTCTCGCC	0.517000													14	61					7.93312e-07	8.74424e-07	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176564105	176564105	+	Silent	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:176564105C>A	ENST00000367662.3	+	3	2529	c.1365C>A	c.(1363-1365)gtC>gtA	p.V455V	PAPPA2_ENST00000367661.3_Silent_p.V455V	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	455	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGACTTGGTCCTGACAGCGA	0.547000													27	130					8.24728e-16	9.90571e-16	1	1	0
FOXL2	668	broad.mit.edu	37	3	138665136	138665136	+	Nonsense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:138665136G>C	ENST00000330315.3	-	1	846	c.429C>G	c.(427-429)taC>taG	p.Y143*		NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	143					convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						GGCGGCGCCGGTAGTTGCCCT	0.726000			Mis		granulosa-cell tumour of the ovary		"""Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"""						5	15					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039411	248039411	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:248039411G>A	ENST00000366481.3	+	6	1129	c.1081G>A	c.(1081-1083)Ggg>Agg	p.G361R	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	361	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTGGGGTTTAGGGGTCTGTCA	0.557000													31	79					0	0	1	0	0
G6PC3	92579	broad.mit.edu	37	17	42152387	42152387	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:42152387C>T	ENST00000269097.4	+	4	698	c.467C>T	c.(466-468)gCg>gTg	p.A156V		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	156					gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TTCCTTTTGGCGGTTGGCTTG	0.547000													29	138					0	0	1	0	0
PLK3	1263	broad.mit.edu	37	1	45268774	45268774	+	Silent	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:45268774C>G	ENST00000372201.4	+	7	1136	c.897C>G	c.(895-897)ccC>ccG	p.P299P	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	299	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GGGCCTCACCCCGAGACCGCC	0.602000													6	72					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193040284	193040284	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:193040284C>A	ENST00000342358.4	-	15	1871	c.1754G>T	c.(1753-1755)aGt>aTt	p.S585I		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	585					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TCATACCTTACTGGCTTTTGG	0.338000													28	104					7.26314e-15	8.68238e-15	1	1	0
PHAX	51808	broad.mit.edu	37	5	125939789	125939789	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:125939789G>A	ENST00000297540.4	+	2	1319	c.624G>A	c.(622-624)ggG>ggA	p.G208G		NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	208	Necessary for interaction with CBP80 (By similarity).				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						ACAGGCTAGGGAACAGACCAG	0.408000													9	70					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172579364	172579364	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:172579364A>G	ENST00000367723.3	+	23	4310	c.4186A>G	c.(4186-4188)Aca>Gca	p.T1396A	SUCO_ENST00000263688.3_Missense_Mutation_p.T1244A	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		CACCGTGGGAACATTTGGTGT	0.368000													8	78					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105378048	105378048	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:105378048G>A	ENST00000264122.4	-	19	3036	c.2715C>T	c.(2713-2715)ccC>ccT	p.P905P	CBLB_ENST00000407712.1_Silent_p.P120P|CBLB_ENST00000394027.3_Silent_p.P883P	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	905	Interaction with SH3KBP1.|Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GTGGTTTAGGGGGTCTGGCTG	0.433000			Mis S		AML								14	68					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70991169	70991169	+	Splice_Site	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:70991169T>A	ENST00000357250.6	-	8	960		c.e8-2		COL9A1_ENST00000370499.4_Splice_Site|COL9A1_ENST00000370496.3_Splice_Site|COL9A1_ENST00000320755.7_Splice_Site	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1						axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGGACCTCTCTGGCAAAAATA	0.622000													5	14					0	0	1	0	0
ANGPTL2	23452	broad.mit.edu	37	9	129870628	129870628	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:129870628C>T	ENST00000373425.3	-	2	1000	c.383G>A	c.(382-384)cGc>cAc	p.R128H	RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000373417.1_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	128					multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						GTTCATGTTGCGGCTCTCCTT	0.622000													9	35					0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42329756	42329756	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:42329756A>G	ENST00000342228.3	-	2	522	c.153T>C	c.(151-153)gcT>gcC	p.A51A	SLC20A2_ENST00000520179.1_Silent_p.A51A|SLC20A2_ENST00000520262.1_Silent_p.A51A	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	51					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CAAATATTGAAGCTAAAATGC	0.498000													31	179					0	0	1	0	0
ARRB2	409	broad.mit.edu	37	17	4624301	4624301	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:4624301G>A	ENST00000269260.2	+	15	1430	c.1197G>A	c.(1195-1197)atG>atA	p.M399I	ARRB2_ENST00000346341.2_Missense_Mutation_p.M396I|ARRB2_ENST00000572457.1_Missense_Mutation_p.M207I|ARRB2_ENST00000412477.3_Missense_Mutation_p.M420I|ARRB2_ENST00000571206.1_Missense_Mutation_p.M207I|ARRB2_ENST00000381488.6_Missense_Mutation_p.M384I|ARRB2_ENST00000574954.1_Missense_Mutation_p.M207I|ARRB2_ENST00000575877.1_3'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	399	Interaction with AP2B1.|Interaction with TRAF6.				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						TGAAGGGGATGAAGGATGACG	0.547000													17	140					0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59182579	59182579	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:59182579T>C	ENST00000380516.2	-	15	2067	c.1980A>G	c.(1978-1980)ttA>ttG	p.L660L	SLTM_ENST00000536328.1_Silent_p.L229L|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	660	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCTCTCTCTGTAAGCGTTCCC	0.458000													26	97					0	0	1	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140773060	140773060	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:140773060G>A	ENST00000398604.2	+	1	680	c.680G>A	c.(679-681)cGc>cAc	p.R227H	PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_032088.1	NP_114477.1												p.R227H(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACAGTGCGCATCCACGTG	0.612000													4	66					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42489290	42489290	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:42489290C>A	ENST00000545399.1	-	8	965	c.812G>T	c.(811-813)gGc>gTc	p.G271V	ATP1A3_ENST00000602133.1_Missense_Mutation_p.G228V|ATP1A3_ENST00000543770.1_Missense_Mutation_p.G269V|ATP1A3_ENST00000302102.5_Missense_Mutation_p.G258V	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	258					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GGCGATACGGCCCATGACAGT	0.662000													5	26					0.00116845	0.00121162	1	1	0
POM121L12	285877	broad.mit.edu	37	7	53103455	53103455	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:53103455G>A	ENST00000408890.4	+	1	107	c.91G>A	c.(91-93)Gct>Act	p.A31T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	31								p.A31S(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGCCCTGGCGGCTCCCATGAG	0.687000													7	35					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53687196	53687196	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:53687196C>T	ENST00000257934.4	+	31	6392	c.6301C>T	c.(6301-6303)Cga>Tga	p.R2101*	ESPL1_ENST00000552462.1_Nonsense_Mutation_p.R2101*	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	2101					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCAAGCTCCCCGACTCAAGTA	0.562000													11	56					0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144550669	144550669	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:144550669C>A	ENST00000262577.5	-	7	2019	c.1988G>T	c.(1987-1989)cGg>cTg	p.R663L		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	663					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CCTGCGCTGCCGCGCCTGCCG	0.672000													4	11					0.00024832	0.000261327	1	1	0
ENO1	2023	broad.mit.edu	37	1	8925448	8925448	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:8925448G>T	ENST00000234590.4	-	8	880	c.761C>A	c.(760-762)tCt>tAt	p.S254Y		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	254					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.S254F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		ATACTTCCCAGACCTGAAGAA	0.552000													11	61					1.33987e-11	1.56569e-11	1	1	0
KIF21A	55605	broad.mit.edu	37	12	39726893	39726893	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:39726893C>G	ENST00000395670.3	-	19	2923	c.2504G>C	c.(2503-2505)cGg>cCg	p.R835P	KIF21A_ENST00000361961.3_Missense_Mutation_p.R822P|KIF21A_ENST00000544797.2_Missense_Mutation_p.R822P|KIF21A_ENST00000361418.5_Missense_Mutation_p.R835P|KIF21A_ENST00000541463.2_Missense_Mutation_p.R799P			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	835					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TCTTACTTGCCGACGAAGAGC	0.443000													25	127					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158622424	158622424	+	Silent	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:158622424G>T	ENST00000368148.3	-	23	3388	c.3208C>A	c.(3208-3210)Cgg>Agg	p.R1070R	SPTA1_ENST00000368147.3_Silent_p.R1070R	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1070					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R1070W(1)|p.R1070R(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTTCTGCCCGATCCAAGAGG	0.428000													8	94					5.18039e-06	5.63974e-06	1	1	0
KCNJ12	3768	broad.mit.edu	37	17	21319080	21319080	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:21319080C>T	ENST00000583088.1	+	3	1321	c.426C>T	c.(424-426)acC>acT	p.T142T	KCNJ12_ENST00000331718.5_Silent_p.T142T	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		AGACGCAGACCACCATCGGCT	0.657000										Prostate(3;0.18)			5	57					0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182542607	182542607	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:182542607C>A	ENST00000295108.3	-	2	1438	c.981G>T	c.(979-981)gaG>gaT	p.E327D	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	327					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTATGGGGATCTCGCAGCGAG	0.507000													9	108					3.09899e-07	3.43511e-07	1	1	0
CASS4	57091	broad.mit.edu	37	20	55033415	55033415	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:55033415C>T	ENST00000371336.3	+	6	2174	c.1973C>T	c.(1972-1974)cCt>cTt	p.P658L	CASS4_ENST00000434344.1_Missense_Mutation_p.P221L|CASS4_ENST00000360314.3_Missense_Mutation_p.P658L	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	658					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CCTCTTATACCTCAGCCTTCG	0.493000													10	74					0	0	1	0	0
CCER1	196477	broad.mit.edu	37	12	91347782	91347782	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:91347782C>T	ENST00000358859.2	-	1	1171	c.738G>A	c.(736-738)ctG>ctA	p.L246L	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		GAGTTTCCTGCAGTCCCCAGG	0.627000													69	296					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187630638	187630638	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:187630638T>A	ENST00000441802.2	-	2	553	c.344A>T	c.(343-345)cAc>cTc	p.H115L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	115	Cadherin 1.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAATGTGTAGTGATCCTTCAC	0.403000										HNSCC(5;0.00058)			29	85					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50730196	50730196	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:50730196T>C	ENST00000440075.2	+	8	894	c.847T>C	c.(847-849)Tac>Cac	p.Y283H	MYH14_ENST00000601313.1_Missense_Mutation_p.Y283H|MYH14_ENST00000598205.1_Missense_Mutation_p.Y283H|MYH14_ENST00000596571.1_Missense_Mutation_p.Y275H|MYH14_ENST00000262269.8_Missense_Mutation_p.Y283H|MYH14_ENST00000425460.1_Missense_Mutation_p.Y283H|MYH14_ENST00000376970.2_Missense_Mutation_p.Y275H			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	275	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TGTTGCCGGGTACATCGTGGG	0.567000													7	66					0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33113434	33113434	+	Missense_Mutation	SNP	C	C	T	rs146675026		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:33113434C>T	ENST00000306065.4	-	18	1879	c.1721G>A	c.(1720-1722)cGc>cAc	p.R574H		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	574					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GTAGCCCCAGCGGGCAGCAAT	0.532000													33	194					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32977005	32977005	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:32977005T>C	ENST00000340811.4	-	7	1756	c.1648A>G	c.(1648-1650)Att>Gtt	p.I550V	PKP2_ENST00000070846.6_Missense_Mutation_p.I594V	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	594					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TAATCTGCAATGGTTCCTCTG	0.413000													7	61					0	0	1	0	0
WEE2	494551	broad.mit.edu	37	7	141420840	141420840	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:141420840G>A	ENST00000397541.2	+	5	1270	c.864G>A	c.(862-864)caG>caA	p.Q288Q	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	288	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					TGATCATTCAGAATGAATACT	0.423000													6	112					0	0	1	0	0
DNAJA3	9093	broad.mit.edu	37	16	4500479	4500479	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:4500479C>T	ENST00000262375.6	+	10	1397	c.1320C>T	c.(1318-1320)ggC>ggT	p.G440G	DNAJA3_ENST00000431375.2_Silent_p.G287G|DNAJA3_ENST00000355296.4_Silent_p.G440G	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	440					activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						CGGTGAACGGCGTCACCCTCA	0.612000													3	13					0	0	1	0	0
GPR153	387509	broad.mit.edu	37	1	6314816	6314816	+	Silent	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:6314816C>A	ENST00000377893.2	-	2	409	c.150G>T	c.(148-150)gcG>gcT	p.A50A		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	50						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		TGTGGGTGGCCGCGAGTGTAC	0.642000													35	91					4.4194e-11	5.14046e-11	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152784490	152784490	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:152784490G>T	ENST00000367255.5	-	19	2696	c.2095C>A	c.(2095-2097)Caa>Aaa	p.Q699K	SYNE1_ENST00000341594.5_Missense_Mutation_p.Q706K|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q706K|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q699K|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q699K|SYNE1_ENST00000466159.2_Missense_Mutation_p.Q699K|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q689K|SYNE1_ENST00000495090.2_Missense_Mutation_p.Q266K|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q699K|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q706K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	699					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGACATACTTGCTTGACTTCC	0.393000										HNSCC(10;0.0054)			18	78					5.3912e-06	5.86202e-06	1	1	0
SLC13A3	64849	broad.mit.edu	37	20	45224801	45224801	+	Nonsense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:45224801G>C	ENST00000413164.2	-	4	759	c.722C>G	c.(721-723)tCa>tGa	p.S241*	SLC13A3_ENST00000279027.4_Silent_p.L263L|SLC13A3_ENST00000472148.1_Silent_p.L216L|SLC13A3_ENST00000495082.1_Silent_p.L216L|SLC13A3_ENST00000290317.5_Silent_p.L216L|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000372121.1_Nonsense_Mutation_p.S241*|SLC13A3_ENST00000396360.1_Silent_p.L216L	NM_001193339.1	NP_001180268.1	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	275						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TTCACCTCTTGAGCTGGCCAA	0.592000													4	42					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34097700	34097700	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:34097700T>C	ENST00000297161.2	+	11	1331	c.957T>C	c.(955-957)tgT>tgC	p.C319C	BMPER_ENST00000426693.1_Silent_p.C319C	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	319	VWFC 5.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CTATCAATTGTACCATCTGTG	0.502000													8	46					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10368004	10368004	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:10368004A>T	ENST00000255381.2	-	6	637	c.527T>A	c.(526-528)tTg>tAg	p.L176*	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	176	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						ATACGTAATCAAGATTGACTG	0.328000													4	45					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61687567	61687567	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:61687567C>T	ENST00000577390.1	-	12	3299	c.2345G>A	c.(2344-2346)cGc>cAc	p.R782H	CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	782					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R782H(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCTCTTAAAGCGGGGACCCCA	0.473000													19	72					0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64176481	64176481	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:64176481T>C	ENST00000262150.2	-	11	1871	c.1579A>G	c.(1579-1581)Aac>Gac	p.N527D	CDH19_ENST00000540086.1_Intron	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	527	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ACAGCTGTGTTATCTAAAACA	0.343000													9	36					0	0	1	0	0
ERVW-1	30816	broad.mit.edu	37	7	92098484	92098484	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:92098484G>A	ENST00000493463.2	-	1	2135	c.1212C>T	c.(1210-1212)tgC>tgT	p.C404C	ERVW-1_ENST00000604270.1_Intron|ERVW-1_ENST00000603053.1_Silent_p.C404C|AC007566.10_ENST00000427458.1_RNA	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN		404					syncytium formation	integral to membrane|plasma membrane|virion				endometrium(1)|large_intestine(1)|lung(15)	17						cataataacagcattcttccc	0.418000													3	11					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26812841	26812841	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:26812841C>G	ENST00000541819.2	-	8	992	c.890G>C	c.(889-891)aGg>aCg	p.R297T	GABRB3_ENST00000311550.5_Missense_Mutation_p.R241T|GABRB3_ENST00000545868.1_Missense_Mutation_p.R156T|GABRB3_ENST00000299267.4_Missense_Mutation_p.R241T|GABRB3_ENST00000400188.3_Missense_Mutation_p.R170T			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	241					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCCAATGTTCCTCTTCAACCG	0.433000													11	66					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3889491	3889491	+	Silent	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:3889491G>T	ENST00000520002.1	-	4	1101	c.546C>A	c.(544-546)atC>atA	p.I182I	CSMD1_ENST00000537824.1_Silent_p.I182I|CSMD1_ENST00000539096.1_Silent_p.I182I|CSMD1_ENST00000400186.3_Silent_p.I182I|CSMD1_ENST00000602723.1_Silent_p.I182I|CSMD1_ENST00000542608.1_Silent_p.I182I|CSMD1_ENST00000602557.1_Silent_p.I182I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	182	Sushi 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCAGGTCAGGATGGCGTGGC	0.542000													3	35					0.115264	0.116052	1	1	0
COL6A6	131873	broad.mit.edu	37	3	130318620	130318620	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:130318620G>C	ENST00000358511.6	+	19	4650	c.4619G>C	c.(4618-4620)gGc>gCc	p.G1540A	COL6A6_ENST00000453409.2_Missense_Mutation_p.G1540A	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1540	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGCTGGCCAGGCCCCCCCGGG	0.498000													9	33					0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21712308	21712308	+	Missense_Mutation	SNP	T	T	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:21712308T>G	ENST00000388958.3	+	10	941	c.940T>G	c.(940-942)Tcc>Gcc	p.S314A	OTOA_ENST00000286149.4_Missense_Mutation_p.S314A|OTOA_ENST00000388956.4_Missense_Mutation_p.S235A	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	314					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GAGGATCAGCTCCTCCAACTT	0.522000													22	47					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149515038	149515038	+	RNA	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:149515038G>A	ENST00000378016.2	+	0	11428							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGCTTCGAGGCCGATGGTGG	0.677000													7	55					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37188607	37188607	+	RNA	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:37188607G>A	ENST00000425901.2	+	0	2449					NR_033753.2																						AGACGCTGTCGTGTATCGATC	0.512000													17	137					0	0	1	0	0
DSTYK	25778	broad.mit.edu	37	1	205132094	205132094	+	Nonsense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:205132094G>C	ENST00000367162.3	-	5	1628	c.1598C>G	c.(1597-1599)tCa>tGa	p.S533*	DSTYK_ENST00000367160.4_Intron|DSTYK_ENST00000367161.3_Nonsense_Mutation_p.S533*	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	533						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TGACGACCCTGAGTGAAACGT	0.398000													25	219					0	0	1	0	0
EMILIN1	11117	broad.mit.edu	37	2	27306073	27306073	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:27306073G>A	ENST00000380320.4	+	4	2133	c.1634G>A	c.(1633-1635)cGt>cAt	p.R545H		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	545					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCAGGATCGTGTGGATGCC	0.672000													13	42					0	0	1	0	0
RALBP1	10928	broad.mit.edu	37	18	9516869	9516869	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:9516869G>C	ENST00000019317.4	+	3	494	c.271G>C	c.(271-273)Gat>Cat	p.D91H	RALBP1_ENST00000383432.3_Missense_Mutation_p.D91H			Q15311	RBP1_HUMAN	ralA binding protein 1	91					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						CTTTCAGGAAGATAGCTCTGG	0.388000													9	75					0	0	1	0	0
TACR2	6865	broad.mit.edu	37	10	71174888	71174888	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:71174888C>T	ENST00000373306.4	-	2	943	c.400G>A	c.(400-402)Gcc>Acc	p.A134T		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	134					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	TGGACGATGGCCATGTACCTG	0.657000													4	49					0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70078379	70078379	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:70078379G>T	ENST00000446444.1	-	2	790	c.782C>A	c.(781-783)tCc>tAc	p.S261Y	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	261					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						AAAACTCCAGGAGTTTCGCAT	0.398000													30	115					0.000147802	0.000156945	1	1	0
USF1	7391	broad.mit.edu	37	1	161012387	161012387	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:161012387G>A	ENST00000368021.3	-	4	336	c.132C>T	c.(130-132)gaC>gaT	p.D44D	USF1_ENST00000368019.1_Silent_p.D44D|USF1_ENST00000368020.1_Silent_p.D44D|USF1_ENST00000435396.1_5'UTR	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	44					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TGACGTTGGGGTCAGGGAAGG	0.552000													11	66					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508466	37508466	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:37508466G>A	ENST00000374660.1	+	40	4114	c.4015G>A	c.(4015-4017)Gaa>Aaa	p.E1339K	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1220K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1220K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1276						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGCTCTAAGAGAAAATACATT	0.363000													12	53					0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121784752	121784752	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:121784752A>G	ENST00000261819.3	-	3	465	c.344T>C	c.(343-345)cTt>cCt	p.L115P	ANAPC5_ENST00000441917.2_Missense_Mutation_p.L16P|ANAPC5_ENST00000344395.4_Missense_Mutation_p.L16P|ANAPC5_ENST00000541887.1_Missense_Mutation_p.L115P	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	115					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGAATCTGAAAGGTCATCAAA	0.383000													19	26					0	0	1	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151358114	151358114	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:151358114T>C	ENST00000367321.3	+	26	2982	c.2708T>C	c.(2707-2709)tTg>tCg	p.L903S		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	903	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TTTGGAAATTTGCCCATCTGC	0.453000													7	64					0	0	1	0	0
FAM162A	26355	broad.mit.edu	37	3	122126162	122126162	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:122126162C>T	ENST00000477892.1	+	4	382	c.298C>T	c.(298-300)Cga>Tga	p.R100*	FAM162A_ENST00000469967.1_Nonsense_Mutation_p.R100*|FAM162A_ENST00000232125.5_Nonsense_Mutation_p.R90*	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	100						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						GAACAAGATGCGAGTGAAGAT	0.418000													10	54					0	0	1	0	0
FAH	2184	broad.mit.edu	37	15	80478483	80478483	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:80478483G>T	ENST00000539156.1	+	13	3220	c.982G>T	c.(982-984)Ggg>Tgg	p.G328W	FAH_ENST00000261755.5_Missense_Mutation_p.G398W|FAH_ENST00000407106.1_Missense_Mutation_p.G398W|FAH_ENST00000561421.1_Missense_Mutation_p.G398W			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	398					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTACTGCCAGGGGGATGGTTA	0.562000									Tyrosinemia, type 1				9	51					0.00448238	0.00461821	1	1	0
AZIN1	51582	broad.mit.edu	37	8	103846976	103846976	+	Splice_Site	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:103846976C>A	ENST00000337198.5	-	7	1748		c.e7-1		AZIN1_ENST00000347770.4_Splice_Site	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1						polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			AACATGAAATCTGAAACACAT	0.343000													4	64					0.014758	0.0149955	1	1	0
AQP8	343	broad.mit.edu	37	16	25238510	25238510	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:25238510G>T	ENST00000219660.5	+	5	849	c.724G>T	c.(724-726)Gga>Tga	p.G242*	AQP8_ENST00000566125.1_Nonsense_Mutation_p.G236*	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	242					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		CCTGCTTGTTGGACTGCTCAT	0.597000													13	60					1.05317e-09	1.20909e-09	1	1	0
CNTRL	11064	broad.mit.edu	37	9	123907593	123907593	+	Silent	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:123907593G>T	ENST00000373855.1	+	22	3500	c.3240G>T	c.(3238-3240)ctG>ctT	p.L1080L	CNTRL_ENST00000373850.1_Silent_p.L528L|CNTRL_ENST00000238341.5_Silent_p.L1080L|CNTRL_ENST00000373847.1_Silent_p.L528L			Q7Z7A1	CNTRL_HUMAN	centriolin	1080					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TTGAGAAACTGAATGAGACAA	0.393000													16	115					1.3612e-06	1.49758e-06	1	1	0
FOLH1	2346	broad.mit.edu	37	11	49178307	49178307	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:49178307C>A	ENST00000340334.7	-	16	1908	c.1540G>T	c.(1540-1542)Gga>Tga	p.G514*	FOLH1_ENST00000343844.4_Nonsense_Mutation_p.G221*|FOLH1_ENST00000256999.2_Nonsense_Mutation_p.G529*|FOLH1_ENST00000356696.3_Nonsense_Mutation_p.G529*|FOLH1_ENST00000533034.1_Nonsense_Mutation_p.G514*	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	529	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GAAGCAATTCCAAGTCGTTGG	0.294000													16	132					9.95505e-16	1.19407e-15	1	1	0
DZIP1	22873	broad.mit.edu	37	13	96294069	96294069	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr13:96294069G>A	ENST00000347108.3	-	3	509	c.77C>T	c.(76-78)cCa>cTa	p.P26L	DZIP1_ENST00000466027.1_5'UTR|DZIP1_ENST00000361156.3_Missense_Mutation_p.P26L|DZIP1_ENST00000361396.2_Missense_Mutation_p.P26L|DZIP1_ENST00000376829.2_Missense_Mutation_p.P26L			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	26					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GGGCCCCTCTGGGCCGCTGGC	0.766000													2	2					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74825069	74825069	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:74825069G>A	ENST00000256362.4	+	2	1824	c.1583G>A	c.(1582-1584)cGc>cAc	p.R528H		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	528					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CCTTTCTGCCGCTTCCGCCTC	0.652000													12	114					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179605690	179605690	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:179605690C>A	ENST00000589042.1	-	48	12494	c.12270G>T	c.(12268-12270)caG>caT	p.Q4090H	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q3727H|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.Q3852H|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q3773H|TTN_ENST00000342175.6_Missense_Mutation_p.Q3919H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3773							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGATAGTTGCTGGTTTTCTT	0.413000													24	107					1.22574e-08	1.39185e-08	1	1	0
ASCC3	10973	broad.mit.edu	37	6	100964172	100964172	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:100964172C>G	ENST00000369162.2	-	39	6303	c.5959G>C	c.(5959-5961)Gct>Cct	p.A1987P		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1987					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CGACCCCTAGCATGTGGGCCC	0.453000													9	86					0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64425962	64425962	+	Splice_Site	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:64425962G>T	ENST00000410046.3	+	7	1574	c.1294_splice	c.e7+1	p.G432_splice	ZNF365_ENST00000395249.1_Splice_Site_p.G38_splice|ZNF365_ENST00000395251.1_Splice_Site_p.G186_splice	NM_199451.2	NP_955523.1	Q70YC4	TALAN_HUMAN	zinc finger protein 365	186										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TTGTGTGATTGGTAAGAATTT	0.408000													8	30					5.18039e-06	5.63974e-06	1	1	0
LRRC7	57554	broad.mit.edu	37	1	70573435	70573435	+	Splice_Site	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:70573435G>T	ENST00000310961.5	+	26	4724	c.4305_splice	c.e26-1	p.G1436_splice	LRRC7_ENST00000415775.2_Splice_Site_p.G762_splice|LRRC7_ENST00000035383.5_Splice_Site_p.G1478_splice			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1478						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGACTTATAGGGTATCTTTGT	0.408000													14	54					2.31682e-05	2.49917e-05	1	1	0
CBFA2T3	863	broad.mit.edu	37	16	88952473	88952473	+	Silent	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:88952473G>T	ENST00000268679.4	-	6	1185	c.789C>A	c.(787-789)gcC>gcA	p.A263A	CBFA2T3_ENST00000448839.1_Silent_p.A187A|RP11-830F9.5_ENST00000565053.1_RNA|CBFA2T3_ENST00000327483.5_Silent_p.A177A|CBFA2T3_ENST00000360302.2_Silent_p.A177A|CBFA2T3_ENST00000436887.2_Silent_p.A238A	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	263	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|TAFH.				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GCTCATGCTGGGCCAAGTACT	0.667000			T	RUNX1	AML								3	9					0.004672	0.00480238	1	1	0
BMX	660	broad.mit.edu	37	X	15540712	15540712	+	Splice_Site	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:15540712T>C	ENST00000357607.2	+	7	940		c.e7+2		BMX_ENST00000348343.6_Splice_Site|BMX_ENST00000342014.6_Splice_Site			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase						cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					ACTGAAAAGGTAATCCCCAGC	0.498000													7	48					0	0	1	0	0
CEP170B	283638	broad.mit.edu	37	14	105353864	105353864	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:105353864C>T	ENST00000453495.1	+	12	3519	c.3291C>T	c.(3289-3291)agC>agT	p.S1097S	CEP170B_ENST00000418279.1_Silent_p.S1026S|CEP170B_ENST00000414716.3_Silent_p.S1096S|CEP170B_ENST00000556508.1_Silent_p.S1026S					centrosomal protein 170B																		AGGAGCAGAGCCGTAGCTCAG	0.726000													3	24					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128842743	128842743	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:128842743G>A	ENST00000310343.9	-	21	3615	c.3616C>T	c.(3616-3618)Cgt>Tgt	p.R1206C	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R857C|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R857C	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1206					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTGTAGAAACGGGGTGGAGAC	0.468000													29	70					0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116579889	116579889	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:116579889G>A	ENST00000540275.1	+	2	404	c.283G>A	c.(283-285)Gca>Aca	p.A95T				Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	461					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CAGTCCCGGCGCACCCAATGC	0.622000													10	65					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926483	157926483	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:157926483G>C	ENST00000389413.3	-	9	1545	c.1442C>G	c.(1441-1443)tCg>tGg	p.S481W	PTPRN2_ENST00000409483.1_Missense_Mutation_p.S443W|PTPRN2_ENST00000404321.2_Missense_Mutation_p.S504W|PTPRN2_ENST00000389416.4_Missense_Mutation_p.S464W|PTPRN2_ENST00000389418.4_Missense_Mutation_p.S481W	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	481						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTCCTCCTTCGAGGGCCCAGG	0.647000													15	72					0	0	1	0	0
TAF1C	9013	broad.mit.edu	37	16	84212561	84212561	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:84212561G>A	ENST00000567759.1	-	14	2778	c.2596C>T	c.(2596-2598)Cga>Tga	p.R866*	TAF1C_ENST00000541676.1_Nonsense_Mutation_p.R773*|TAF1C_ENST00000570117.1_Nonsense_Mutation_p.R534*|TAF1C_ENST00000566732.1_Nonsense_Mutation_p.R840*|TAF1C_ENST00000341690.6_Nonsense_Mutation_p.R772*|TAF1C_ENST00000378541.4_Nonsense_Mutation_p.R866*	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	866					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						AAGCCCATTCGAGGCTTCTTC	0.627000													14	31					0	0	1	0	0
EN2	2020	broad.mit.edu	37	7	155255091	155255091	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:155255091G>A	ENST00000297375.4	+	2	960	c.711G>A	c.(709-711)aaG>aaA	p.K237K		NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2	237						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AACCAAAGAAGAAGAACCCGA	0.577000													12	184					0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40113714	40113714	+	Silent	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:40113714A>T	ENST00000261435.6	+	6	1925	c.1509A>T	c.(1507-1509)gcA>gcT	p.A503A		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	503						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CAAAAGAAGCATTTGAGAAGA	0.254000													11	112					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228503570	228503570	+	Silent	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:228503570G>C	ENST00000570156.2	+	61	15980	c.15906G>C	c.(15904-15906)ggG>ggC	p.G5302G	OBSCN_ENST00000284548.11_Silent_p.G4345G|OBSCN_ENST00000366709.4_Silent_p.G1464G|OBSCN_ENST00000366707.4_Silent_p.G1979G|OBSCN_ENST00000422127.1_Silent_p.G4345G	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4345	Ig-like 50.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGTGCGGGGGCTGGAGAATG	0.672000													3	13					0	0	1	0	0
TBCK	93627	broad.mit.edu	37	4	106967834	106967834	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:106967834C>A	ENST00000273980.4	-	27	3022	c.2575G>T	c.(2575-2577)Gca>Tca	p.A859S	TBCK_ENST00000394706.3_Missense_Mutation_p.A820S|TBCK_ENST00000432496.2_Missense_Mutation_p.A859S|TBCK_ENST00000394708.2_Missense_Mutation_p.A859S|TBCK_ENST00000361687.4_Missense_Mutation_p.A796S			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	859	Rhodanese.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						AGGTGAGCTGCAAACTGGAAA	0.348000													5	38					0.00116845	0.00121162	1	1	0
BPTF	2186	broad.mit.edu	37	17	65907696	65907696	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:65907696G>C	ENST00000321892.4	+	13	4135	c.4074G>C	c.(4072-4074)aaG>aaC	p.K1358N	BPTF_ENST00000424123.3_Missense_Mutation_p.K1219N|BPTF_ENST00000335221.5_Missense_Mutation_p.K1358N|BPTF_ENST00000306378.6_Missense_Mutation_p.K1232N			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1358					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGATCTGTAAGAACAAAAAAC	0.393000													16	90					0	0	1	0	0
MYB	4602	broad.mit.edu	37	6	135507087	135507087	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:135507087C>T	ENST00000341911.5	+	2	269	c.70C>T	c.(70-72)Cat>Tat	p.H24Y	MYB_ENST00000528774.1_Missense_Mutation_p.H24Y|MYB_ENST00000533624.1_Missense_Mutation_p.H24Y|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534044.1_Missense_Mutation_p.H24Y|MYB_ENST00000534121.1_Missense_Mutation_p.H24Y|MYB_ENST00000442647.2_Missense_Mutation_p.H24Y|MYB_ENST00000525369.1_Missense_Mutation_p.H24Y|MYB_ENST00000316528.8_Missense_Mutation_p.H24Y|MYB_ENST00000420123.2_Missense_Mutation_p.H24Y|MYB_ENST00000527615.1_Missense_Mutation_p.H24Y|MYB_ENST00000367814.4_Missense_Mutation_p.H24Y	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	24					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GATGTGTGACCATGACTATGA	0.453000			T	NFIB	adenoid cystic carcinoma								19	96					0	0	1	0	0
TAS2R16	50833	broad.mit.edu	37	7	122634980	122634980	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:122634980T>C	ENST00000249284.2	-	1	774	c.709A>G	c.(709-711)Acc>Gcc	p.T237A		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	237					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAGTAAGAGGTAAACACAATA	0.423000													24	134					0	0	1	0	0
HBB	3043	broad.mit.edu	37	11	5247914	5247914	+	Missense_Mutation	SNP	C	C	A	rs33947415		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:5247914C>A	ENST00000335295.3	-	2	383	c.208G>T	c.(208-210)Ggt>Tgt	p.G70C		NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	70			G -> D (in Rambam).|G -> R (in Kenitra).|G -> S (in City of Hope).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	CTAAAGGCACCGAGCACTTTC	0.547000									Sickle Cell Trait				14	110					2.94398e-08	3.32585e-08	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77618430	77618430	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:77618430G>T	ENST00000521891.2	+	2	2555	c.2107G>T	c.(2107-2109)Gtt>Ttt	p.V703F	ZFHX4_ENST00000518282.1_Missense_Mutation_p.V703F|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.V703F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.V703F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	703						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCGTTGTGAGGTTTGTAACTA	0.493000										HNSCC(33;0.089)			7	56					0.00448238	0.00461821	1	1	0
C2orf71	388939	broad.mit.edu	37	2	29293497	29293497	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:29293497T>C	ENST00000331664.5	-	1	3630	c.3631A>G	c.(3631-3633)Acc>Gcc	p.T1211A		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1211					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GAGGTGCTGGTGGGGTCCAAG	0.612000													15	57					0	0	1	0	0
SPSB3	90864	broad.mit.edu	37	16	1827143	1827143	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:1827143A>G	ENST00000566339.1	-	7	1353	c.1023T>C	c.(1021-1023)agT>agC	p.S341S	SPSB3_ENST00000301717.4_Silent_p.S341S	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	341					intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						GAGGCTCGCGACTGCTGGGGT	0.662000													15	74					0	0	1	0	0
LST3	0	broad.mit.edu	37	12	21175839	21175839	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:21175839G>A	ENST00000381541.3	+	5	602	c.537G>A	c.(535-537)atG>atA	p.M179I	SLCO1B7_ENST00000554957.1_Missense_Mutation_p.M179I|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.M132I																							TGGGTAATATGCTTCGTGGCA	0.368000													9	111					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43351404	43351404	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:43351404T>A	ENST00000395891.1	+	4	675	c.70T>A	c.(70-72)Tct>Act	p.S24T	HECW1_ENST00000453890.1_Missense_Mutation_p.S24T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	24					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CGCCATGGCGTCTCCTTCTAG	0.607000													15	101					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744451	140744451	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:140744451G>T	ENST00000518069.1	+	1	554	c.554G>T	c.(553-555)gGa>gTa	p.G185V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGTAAGCGGAACTGATGGA	0.547000													7	49					0.0293803	0.0297676	1	1	0
MATN4	8785	broad.mit.edu	37	20	43929583	43929583	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:43929583T>C	ENST00000537548.1	-	7	1200	c.956A>G	c.(955-957)tAc>tGc	p.Y319C	MATN4_ENST00000372753.1_Missense_Mutation_p.Y170C|MATN4_ENST00000353917.5_Missense_Mutation_p.Y237C|MATN4_ENST00000372756.1_Missense_Mutation_p.Y319C|MATN4_ENST00000372754.1_Missense_Mutation_p.Y360C|MATN4_ENST00000360607.5_Missense_Mutation_p.Y278C|MATN4_ENST00000372751.4_Missense_Mutation_p.Y170C|MATN4_ENST00000342716.4_Missense_Mutation_p.Y319C			O95460	MATN4_HUMAN	matrilin 4	360	EGF-like 3.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CAGGCAGCGGTAGGAGAGGCC	0.602000											OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	34					0	0	1	0	0
IGLL5	100423062	broad.mit.edu	37	22	23237723	23237723	+	Missense_Mutation	SNP	A	A	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr22:23237723A>C	ENST00000532223.1	+	3	771	c.497A>C	c.(496-498)aAa>aCa	p.K166T	IGLL5_ENST00000526893.1_Missense_Mutation_p.K165T|IGLL5_ENST00000531372.1_3'UTR|IGLC1_ENST00000390321.2_RNA			B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	165	C region (By similarity to lambda light- chain).|Ig-like C1-type.					extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						GAGACCACCAAACCCTCCAAA	0.602000													11	44					0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149767552	149767552	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:149767552A>G	ENST00000451292.1	+	19	3166	c.3058A>G	c.(3058-3060)Acc>Gcc	p.T1020A	TCOF1_ENST00000323668.7_Missense_Mutation_p.T906A|TCOF1_ENST00000439160.2_Missense_Mutation_p.T983A|TCOF1_ENST00000504761.2_Missense_Mutation_p.T983A|TCOF1_ENST00000445265.2_Missense_Mutation_p.T906A|TCOF1_ENST00000513346.1_Missense_Mutation_p.T1020A|TCOF1_ENST00000377797.3_Missense_Mutation_p.T983A			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	983					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCTGCAAGCACCCCGAGGAA	0.587000													15	48					0	0	1	0	0
CCDC110	256309	broad.mit.edu	37	4	186366660	186366660	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:186366660T>C	ENST00000307588.3	-	7	2573	c.2498A>G	c.(2497-2499)cAt>cGt	p.H833R	C4orf47_ENST00000378850.4_Intron|CCDC110_ENST00000393540.3_Missense_Mutation_p.H796R	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	833						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		GGAATCCTAATGATGCTTGAG	0.313000													9	66					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41597673	41597673	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:41597673C>T	ENST00000330436.3	+	5	691	c.691C>T	c.(691-693)Cca>Tca	p.P231S		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	231					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	GAAACACCTGCCAGGACCACA	0.572000													10	57					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50407943	50407943	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:50407943T>C	ENST00000217086.4	-	2	1190	c.1079A>G	c.(1078-1080)aAg>aGg	p.K360R	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Missense_Mutation_p.K360R	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	360					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGCTTCCCCTTCCCTTTCTT	0.577000													5	77					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11485876	11485876	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:11485876T>A	ENST00000423059.3	-	13	3127	c.2876A>T	c.(2875-2877)gAc>gTc	p.D959V	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	959	TSP type-1 9.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATTATATTTGTCACAAGGACA	0.393000										HNSCC(18;0.044)			35	156					0	0	1	0	0
CPB1	1360	broad.mit.edu	37	3	148545858	148545858	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:148545858G>A	ENST00000491148.1	+	3	475	c.141G>A	c.(139-141)acG>acA	p.T47T	CPB1_ENST00000282957.4_Silent_p.T47T			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	47					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TGGCCAGCACGACCCAGGTAA	0.353000													11	48					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5237198	5237198	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:5237198G>A	ENST00000274181.7	+	14	2278	c.2140G>A	c.(2140-2142)Gat>Aat	p.D714N	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	714	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGTTTGTATAGATGGGATATG	0.403000													17	53					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738826	176738826	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:176738826G>A	ENST00000367662.3	+	16	5571	c.4407G>A	c.(4405-4407)ccG>ccA	p.P1469P		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1469	Sushi 2.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTCCCGACCCGTCTTTGGTGA	0.498000													23	151					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48801591	48801591	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:48801591T>C	ENST00000314191.2	-	34	4317	c.4261A>G	c.(4261-4263)Aaa>Gaa	p.K1421E	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.K1421E	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1422					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GCTGTTATTTTCTCTCTCAGA	0.483000								Non-homologous end-joining					6	42					0	0	1	0	0
CABYR	26256	broad.mit.edu	37	18	21739516	21739516	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:21739516C>A	ENST00000399496.3	+	5	787	c.622C>A	c.(622-624)Caa>Aaa	p.Q208K	CABYR_ENST00000327201.6_Missense_Mutation_p.Q110K|CABYR_ENST00000399481.2_3'UTR|RP11-799B12.4_ENST00000583267.1_lincRNA|CABYR_ENST00000581397.1_Missense_Mutation_p.Q208K|CABYR_ENST00000415309.2_Intron|CABYR_ENST00000399499.1_Missense_Mutation_p.Q208K	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	393					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					TAAGAATCAACAAGGTCACCC	0.443000													15	74					1.52009e-12	1.79288e-12	1	1	0
SESN3	143686	broad.mit.edu	37	11	94924580	94924580	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:94924580A>G	ENST00000536441.1	-	3	666	c.330T>C	c.(328-330)taT>taC	p.Y110Y	SESN3_ENST00000278499.2_Silent_p.Y32Y|SESN3_ENST00000393234.1_Silent_p.Y110Y|SESN3_ENST00000416495.2_Silent_p.Y110Y|RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	110					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TTATTGCAATATAGTGCCTGT	0.438000													14	145					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170803010	170803010	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:170803010C>A	ENST00000436636.2	-	25	3239	c.2895G>T	c.(2893-2895)atG>atT	p.M965I	TNIK_ENST00000369326.5_Missense_Mutation_p.M943I|TNIK_ENST00000488470.1_Missense_Mutation_p.M910I|TNIK_ENST00000475336.1_Missense_Mutation_p.M873I|TNIK_ENST00000538048.1_Missense_Mutation_p.M917I|TNIK_ENST00000357327.5_Missense_Mutation_p.M936I|TNIK_ENST00000460047.1_Missense_Mutation_p.M902I|TNIK_ENST00000284483.8_Missense_Mutation_p.M957I|TNIK_ENST00000341852.6_Missense_Mutation_p.M881I|TNIK_ENST00000470834.1_Missense_Mutation_p.M928I	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	965	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TGCTGCTCCCCATGCCATACT	0.458000													3	10					0.115264	0.116052	1	1	0
MORN5	254956	broad.mit.edu	37	9	124929055	124929055	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:124929055G>A	ENST00000536616.1	+	2	94	c.56G>A	c.(55-57)gGc>gAc	p.G19D	MORN5_ENST00000486801.1_3'UTR|MORN5_ENST00000373764.3_Missense_Mutation_p.G19D			Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	19								p.G19D(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						AGGATGGAGGGCAAAGCCAAG	0.537000													3	24					0	0	1	0	0
MTL5	9633	broad.mit.edu	37	11	68478347	68478347	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:68478347G>A	ENST00000255087.5	-	9	1512	c.1329C>T	c.(1327-1329)caC>caT	p.H443H		NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	443					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CCTACCTATCGTGACTGAATC	0.418000													6	42					0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52709292	52709292	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:52709292C>T	ENST00000322088.6	+	3	304	c.246C>T	c.(244-246)ggC>ggT	p.G82G	PPP2R1A_ENST00000444322.2_Intron|PPP2R1A_ENST00000473455.2_3'UTR|PPP2R1A_ENST00000462990.1_5'UTR	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	82	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TGGTGGGAGGCCCAGAGTACG	0.602000			Mis		clear cell ovarian carcinoma								5	78					0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6592204	6592204	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:6592204G>A	ENST00000254579.6	+	42	14026	c.13462G>A	c.(13462-13464)Gag>Aag	p.E4488K	DNHD1_ENST00000527990.2_Missense_Mutation_p.E4488K	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4488					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTTAGAGACCGAGGCTCTAGA	0.652000													4	62					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51883582	51883582	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:51883582G>T	ENST00000453097.2	+	19	2764	c.2547G>T	c.(2545-2547)ttG>ttT	p.L849F	SLC4A8_ENST00000358657.3_Missense_Mutation_p.L876F	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	849					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CAACTGTCTTGTCCATCACAC	0.547000													23	119					4.26978e-12	5.01926e-12	1	1	0
PPHLN1	51535	broad.mit.edu	37	12	42787470	42787470	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:42787470G>A	ENST00000432191.2	+	7	654	c.582G>A	c.(580-582)ttG>ttA	p.L194L	PPHLN1_ENST00000337898.6_Silent_p.L194L|PPHLN1_ENST00000449194.2_Silent_p.L230L|PPHLN1_ENST00000395568.2_Silent_p.L249L|PPHLN1_ENST00000549190.1_Silent_p.L267L|PPHLN1_ENST00000256678.8_Silent_p.L129L|PPHLN1_ENST00000552761.1_Silent_p.L201L|PPHLN1_ENST00000358314.7_Silent_p.L249L|PPHLN1_ENST00000395580.3_Silent_p.L256L|PPHLN1_ENST00000317560.9_Silent_p.L182L	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	249	Ser-rich.				keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		AAAGTAACTTGCCTGAAATTT	0.388000													11	63					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685701	248685701	+	Missense_Mutation	SNP	T	T	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:248685701T>G	ENST00000343414.4	+	1	786	c.754T>G	c.(754-756)Tat>Gat	p.Y252D		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATCATTTTCTATGGGACCAT	0.448000													19	129					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196883693	196883693	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:196883693G>A	ENST00000367416.2	+	8	1383	c.1246G>A	c.(1246-1248)Gac>Aac	p.D416N	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Missense_Mutation_p.D170N|CFHR4_ENST00000251424.4_Missense_Mutation_p.D170N	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TAAGCTCCATGACACATTGGA	0.408000													21	65					0	0	1	0	0
MPHOSPH6	10200	broad.mit.edu	37	16	82182360	82182360	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:82182360C>T	ENST00000258169.4	-	5	509	c.459G>A	c.(457-459)aaG>aaA	p.K153K	MPHOSPH6_ENST00000563504.1_Silent_p.K124K	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	153					M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding			endometrium(1)|large_intestine(1)|lung(3)	5						TTAAGAACATCTTCTTTGCTT	0.463000													11	99					0	0	1	0	0
PPAN	56342	broad.mit.edu	37	19	10224818	10224818	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:10224818G>A	ENST00000556468.1	+	13	1816	c.1789G>A	c.(1789-1791)Gcg>Acg	p.A597T	P2RY11_ENST00000321826.4_Missense_Mutation_p.A177T|PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.A597T					peter pan homolog (Drosophila)											endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GCAGCAGGGGGCGGGCAACTG	0.701000													5	43					0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117203554	117203554	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:117203554C>T	ENST00000332958.2	+	4	545	c.529C>T	c.(529-531)Cta>Tta	p.L177L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	177					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GTTTCCCCTCCTAACAACAAG	0.403000													14	62					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3327948	3327948	+	Splice_Site	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:3327948G>T	ENST00000378398.3	+	10	1272	c.1189_splice	c.e10-1	p.C397_splice	PRDM16_ENST00000442529.2_Splice_Site_p.C396_splice|PRDM16_ENST00000441472.2_Splice_Site_p.C396_splice|PRDM16_ENST00000514189.1_Splice_Site_p.C397_splice|PRDM16_ENST00000511072.1_Splice_Site_p.C397_splice|PRDM16_ENST00000378391.2_Splice_Site_p.C396_splice|PRDM16_ENST00000270722.5_Splice_Site_p.C396_splice|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	396					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GATGTTTTAGGTGAGGTCTGC	0.562000			T	EVI1	"""MDS, AML"""								7	37					8.12818e-05	8.65701e-05	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141200073	141200073	+	Splice_Site	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:141200073C>T	ENST00000389484.3	-	66	11385	c.10414_splice	c.e66+1	p.D3472_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3472	LDL-receptor class A 24.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D3472N(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGACACTCACCGCAGTTGGCC	0.448000										TSP Lung(27;0.18)			13	78					0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73790474	73790474	+	Silent	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:73790474C>A	ENST00000223398.6	+	10	2070	c.1743C>A	c.(1741-1743)ctC>ctA	p.L581L	CLIP2_ENST00000361545.5_Silent_p.L546L|CLIP2_ENST00000395060.1_Silent_p.L581L	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	581						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TGGACAAGCTCCGCGCGGCCA	0.612000													7	36					2.0095e-06	2.20123e-06	1	1	0
OR5T1	390155	broad.mit.edu	37	11	56043410	56043410	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:56043410C>A	ENST00000313033.2	+	1	382	c.296C>A	c.(295-297)gCa>gAa	p.A99E		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					AATTTCCTGGCAAAAAATAAA	0.373000													19	108					5.03518e-11	5.84518e-11	1	1	0
RAB30	27314	broad.mit.edu	37	11	82705146	82705146	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:82705146G>C	ENST00000533486.1	-	4	396	c.112C>G	c.(112-114)Caa>Gaa	p.Q38E	RAB30_ENST00000534141.1_Missense_Mutation_p.Q38E|RAB30_ENST00000532548.1_Missense_Mutation_p.Q38E|RAB30_ENST00000525117.1_Intron|RAB30_ENST00000527633.1_Missense_Mutation_p.Q38E|RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000260056.2_Missense_Mutation_p.Q38E	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	38					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GTGGCTCCTTGACCTGGGGGG	0.383000													10	97					0	0	1	0	0
MFSD2B	388931	broad.mit.edu	37	2	24240374	24240374	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:24240374C>T	ENST00000338315.4	+	6	597	c.597C>T	c.(595-597)caC>caT	p.H199H	MFSD2B_ENST00000406420.3_Silent_p.H199H			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	199					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CCACTGTCCACGGGCTCATCG	0.647000													3	5					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98602015	98602015	+	Silent	SNP	G	G	A	rs55828848		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:98602015G>A	ENST00000359863.4	+	67	10679	c.10470G>A	c.(10468-10470)acG>acA	p.T3490T	TRRAP_ENST00000355540.3_Silent_p.T3461T|TRRAP_ENST00000446306.3_Silent_p.T3479T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3490					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.T3490T(1)|p.T3461T(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAAAGCCAACGCATTATTACA	0.537000													7	94					0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32031667	32031667	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:32031667G>T	ENST00000360311.4	+	2	1645	c.1096G>T	c.(1096-1098)Gga>Tga	p.G366*		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						AATTCACACTGGAGAGAAACC	0.403000													5	65					0.217242	0.217858	1	1	0
HEATR2	54919	broad.mit.edu	37	7	796599	796599	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:796599G>A	ENST00000297440.6	+	6	1458	c.1438G>A	c.(1438-1440)Gca>Aca	p.A480T	HEATR2_ENST00000313147.5_Missense_Mutation_p.A480T	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	480							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CACAGAGCTGGCACAGGCCCA	0.677000													10	30					0	0	1	0	0
FAR1	84188	broad.mit.edu	37	11	13734522	13734522	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:13734522C>T	ENST00000354817.3	+	8	1041	c.897C>T	c.(895-897)aaC>aaT	p.N299N	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	299					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						GACCAAGAAACATCATGGTGT	0.348000													10	109					0	0	1	0	0
GTPBP2	54676	broad.mit.edu	37	6	43591806	43591806	+	Splice_Site	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:43591806C>T	ENST00000307126.5	-	8	1100		c.e8-1		GTPBP2_ENST00000307114.7_Splice_Site|GTPBP2_ENST00000476510.1_Splice_Site	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	GTP binding protein 2								GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GGGGGTGACACTGTAGAGGGA	0.527000													14	48					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24567011	24567011	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:24567011T>A	ENST00000319715.4	+	5	856	c.424T>A	c.(424-426)Tac>Aac	p.Y142N	RBBP6_ENST00000381039.3_Missense_Mutation_p.Y142N|RBBP6_ENST00000348022.2_Missense_Mutation_p.Y142N	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	142					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TGGCCATGAATACGACCCAAT	0.373000													16	95					0	0	1	0	0
LMNB2	84823	broad.mit.edu	37	19	2432467	2432467	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:2432467T>A	ENST00000325327.3	-	9	1599	c.1537A>T	c.(1537-1539)Atc>Ttc	p.I513F	LMNB2_ENST00000582871.1_Missense_Mutation_p.I493F			Q03252	LMNB2_HUMAN	lamin B2	493	Tail.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGTAGGCGATCTCCTCCCCC	0.622000													16	94					0	0	1	0	0
SLC27A3	11000	broad.mit.edu	37	1	153749141	153749141	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:153749141A>G	ENST00000271857.2	+	2	1959	c.1199A>G	c.(1198-1200)tAc>tGc	p.Y400C	SLC27A3_ENST00000368661.3_Missense_Mutation_p.Y319C|SLC27A3_ENST00000484014.1_3'UTR			Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	319					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTGCCAGGATACCTCTCTTCC	0.602000													21	99					0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50220896	50220896	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:50220896G>T	ENST00000002829.3	+	12	1616	c.1132G>T	c.(1132-1134)Gat>Tat	p.D378Y	SEMA3F_ENST00000434342.1_Missense_Mutation_p.D347Y|SEMA3F_ENST00000413852.1_Missense_Mutation_p.D279Y	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	378	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CTCCATGGCTGATATTCGCAT	0.632000													6	39					5.9392e-07	6.57103e-07	1	1	0
MAGEA11	4110	broad.mit.edu	37	X	148797770	148797770	+	Silent	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:148797770G>T	ENST00000355220.5	+	5	726	c.624G>T	c.(622-624)tcG>tcT	p.S208S	MAGEA11_ENST00000333104.4_Silent_p.S179S	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	208						cytoplasm|nucleus	protein binding	p.S208S(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CAAGTACCTCGCCTGACCTGA	0.498000													29	67					9.39395e-14	1.11541e-13	1	1	0
RREB1	6239	broad.mit.edu	37	6	7249029	7249029	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:7249029A>G	ENST00000379938.2	+	13	5594	c.5057A>G	c.(5056-5058)cAc>cGc	p.H1686R	RREB1_ENST00000349384.6_Missense_Mutation_p.H1631R|RREB1_ENST00000334984.6_Missense_Mutation_p.H1420R|RREB1_ENST00000379933.3_Missense_Mutation_p.H1631R	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1631					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GACTGCAGCCACAGGGAGGAG	0.672000													12	23					0	0	1	0	0
ARNTL2	56938	broad.mit.edu	37	12	27573439	27573439	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:27573439T>C	ENST00000544915.1	+	16	2002	c.1783T>C	c.(1783-1785)Ttc>Ctc	p.F595L	ARNTL2_ENST00000546179.1_3'UTR|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000395901.2_Missense_Mutation_p.F592L|ARNTL2_ENST00000311001.5_Missense_Mutation_p.F615L|ARNTL2_ENST00000542388.1_Missense_Mutation_p.F544L|ARNTL2_ENST00000261178.5_Missense_Mutation_p.F581L|ARNTL2_ENST00000266503.5_Missense_Mutation_p.F629L	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	629					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					CCCTGGGGACTTCAGTGACAT	0.423000													21	79					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87968161	87968161	+	Missense_Mutation	SNP	G	G	A	rs111604211		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:87968161G>A	ENST00000369577.3	+	8	4857	c.4814G>A	c.(4813-4815)cGt>cAt	p.R1605H	ZNF292_ENST00000339907.4_Missense_Mutation_p.R1600H	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1605					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AACAGTTCTCGTGTTTCTGTT	0.378000													11	37					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6539207	6539207	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:6539207C>T	ENST00000263125.5	-	6	648	c.549G>A	c.(547-549)ctG>ctA	p.L183L	PRKCQ_ENST00000539722.1_Silent_p.L58L|PRKCQ_ENST00000397176.2_Silent_p.L183L	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	183					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CCTGTTTGTTCAGGCCCCTGT	0.398000													11	177					0	0	1	0	0
OSGIN1	29948	broad.mit.edu	37	16	83999179	83999179	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:83999179A>G	ENST00000343939.2	+	7	1633	c.1250A>G	c.(1249-1251)tAc>tGc	p.Y417C	OSGIN1_ENST00000393306.1_Missense_Mutation_p.Y334C|OSGIN1_ENST00000361711.3_Missense_Mutation_p.Y334C			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	417					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						AAGATGCTGTACCCCGAGTAC	0.642000													12	42					0	0	1	0	0
TRGV3	6976	broad.mit.edu	37	7	38398126	38398126	+	RNA	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:38398126G>A	ENST00000390346.2	-	0	523																											GTCCCAGGTGGCACAGTAATA	0.483000													17	75					0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38845474	38845474	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:38845474C>T	ENST00000409235.3	+	9	1237	c.1122C>T	c.(1120-1122)ttC>ttT	p.F374F	CATSPERG_ENST00000215069.4_Silent_p.F387F|CATSPERG_ENST00000410018.1_Silent_p.F374F	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	374					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						ATGTACACTTCGGGACCATCA	0.547000													30	162					0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234752892	234752892	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:234752892G>C	ENST00000411486.2	-	7	598	c.533C>G	c.(532-534)aCt>aGt	p.T178S	HJURP_ENST00000441687.1_Missense_Mutation_p.T93S|HJURP_ENST00000432087.1_Missense_Mutation_p.T124S|HJURP_ENST00000434039.1_Intron	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	178					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		AGGCAGCGGAGTCACACGTAC	0.522000													18	114					0	0	1	0	0
PABPC5	140886	broad.mit.edu	37	X	90690970	90690970	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:90690970A>G	ENST00000312600.3	+	2	608	c.394A>G	c.(394-396)Att>Gtt	p.I132V	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	132	RRM 2.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						TTTTGGGAACATTCTGTCCTG	0.448000													19	50					0	0	1	0	0
VLDLR	7436	broad.mit.edu	37	9	2635510	2635510	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:2635510C>T	ENST00000382100.2	+	2	496	c.140C>T	c.(139-141)aCg>aTg	p.T47M	VLDLR_ENST00000382099.2_Missense_Mutation_p.T47M|RP11-125B21.2_ENST00000599229.1_RNA	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	47	LDL-receptor class A 1.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CGCTGTATTACGCTGTTGTGG	0.408000													22	182					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32012899	32012899	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:32012899C>T	ENST00000375244.3	-	32	11012	c.10811G>A	c.(10810-10812)gGc>gAc	p.G3604D	TNXB_ENST00000451343.1_Missense_Mutation_p.G33D|TNXB_ENST00000375247.2_Missense_Mutation_p.G3602D			P22105	TENX_HUMAN	tenascin XB	3649	Fibronectin type-III 28.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTCTGGTCGCCGTCCACGAG	0.642000													8	38					0	0	1	0	0
KRT19P2	160313	broad.mit.edu	37	12	95228583	95228583	+	RNA	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:95228583G>A	ENST00000405395.2	+	0	354					NR_036685.1																						CTGAGGAACTGAACCAGGAGG	0.542000													5	20					0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18260412	18260412	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:18260412T>C	ENST00000262811.5	+	27	3806	c.3806T>C	c.(3805-3807)gTg>gCg	p.V1269A	AC007192.6_ENST00000600364.1_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	1269							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CAGGAGGCCGTGCAGGAGGTT	0.687000													3	27					0	0	1	0	0
GPR68	8111	broad.mit.edu	37	14	91700787	91700787	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:91700787G>A	ENST00000535815.1	-	2	948	c.608C>T	c.(607-609)gCg>gTg	p.A203V	GPR68_ENST00000531499.2_Missense_Mutation_p.A203V|GPR68_ENST00000238699.3_Missense_Mutation_p.A213V	NM_001177676.1	NP_001171147.1	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	203					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		CTGGTAGGACGCCAGCAGCAG	0.657000													4	21					0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41813110	41813110	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:41813110G>A	ENST00000304330.4	-	22	3390	c.3274C>T	c.(3274-3276)Cct>Tct	p.P1092S	RPAP1_ENST00000561603.1_Intron	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1092	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGCTCCGTAGGCATGGGCAGT	0.657000													7	62					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50241769	50241769	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:50241769G>A	ENST00000338821.5	-	18	2242	c.1978C>T	c.(1978-1980)Cgg>Tgg	p.R660W	ATP9A_ENST00000402822.1_Missense_Mutation_p.R539W|ATP9A_ENST00000311637.5_Missense_Mutation_p.R524W	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	660					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGCGTGGGCCGCACATCTGCC	0.642000													8	40					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179478921	179478921	+	Silent	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:179478921G>C	ENST00000589042.1	-	262	49427	c.49203C>G	c.(49201-49203)ctC>ctG	p.L16401L	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.L7336L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.L13833L|TTN_ENST00000359218.5_Silent_p.L7461L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.L14760L|TTN_ENST00000342175.6_Silent_p.L7528L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14760	Ig-like 100.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGGTGGATGAGAGCTTGTGCC	0.448000													9	39					0	0	1	0	0
ZNF222	7673	broad.mit.edu	37	19	44536666	44536666	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:44536666C>T	ENST00000187879.8	+	4	1001	c.839C>T	c.(838-840)aCa>aTa	p.T280I	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.T320I	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				ATGGTCCACACAGCAGAGAAA	0.388000													48	230					0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92406162	92406162	+	Splice_Site	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:92406162A>T	ENST00000276609.3	+	18	2070		c.e18-1		SLC26A7_ENST00000309536.2_Splice_Site|SLC26A7_ENST00000523719.1_Splice_Site|SLC26A7_ENST00000520249.1_Splice_Site	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7							basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GCTTTCTTGAAGCTTCCTTGA	0.363000													21	72					0	0	1	0	0
ZNF512B	57473	broad.mit.edu	37	20	62595880	62595880	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:62595880C>T	ENST00000450537.1	-	6	1284	c.1224G>A	c.(1222-1224)gcG>gcA	p.A408A	ZNF512B_ENST00000369888.1_Silent_p.A408A|ZNF512B_ENST00000217130.3_Silent_p.A408A			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CAGGCGGGGACGCAGGGCCTG	0.672000													8	33					0	0	1	0	0
MAP3K2	10746	broad.mit.edu	37	2	128075800	128075800	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:128075800C>A	ENST00000409947.1	-	13	1421	c.1139G>T	c.(1138-1140)aGa>aTa	p.R380I	MAP3K2_ENST00000344908.5_Missense_Mutation_p.R380I			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	380	Protein kinase.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		AGCCAATTCTCTTCCTGTATC	0.438000													14	84					3.52763e-06	3.84991e-06	1	1	0
CNTNAP2	26047	broad.mit.edu	37	7	146536874	146536874	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:146536874C>A	ENST00000361727.3	+	3	796	c.280C>A	c.(280-282)Cag>Aag	p.Q94K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	94	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAATCGGAAGCAGATCAGTGC	0.512000										HNSCC(39;0.1)			13	48					2.31682e-05	2.49917e-05	1	1	0
LENG8	114823	broad.mit.edu	37	19	54965621	54965621	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:54965621G>A	ENST00000326764.5	+	6	918	c.439G>A	c.(439-441)Ggc>Agc	p.G147S	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	110							protein binding	p.G147S(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CCCAGTCCCCGGCATGGATGA	0.667000													9	54					0	0	1	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43675640	43675640	+	Missense_Mutation	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:43675640G>C	ENST00000564079.1	+	7	901	c.661G>C	c.(661-663)Gac>Cac	p.D221H	TUBGCP4_ENST00000399460.3_Missense_Mutation_p.D85H|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.D221H	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	221					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GCCAGAAGAGGACGAGGAGGA	0.527000													4	74					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135024969	135024969	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:135024969C>T	ENST00000304613.3	+	22	3973	c.3952C>T	c.(3952-3954)Cgg>Tgg	p.R1318W	KNDC1_ENST00000368572.2_Missense_Mutation_p.R1320W			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1318	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GATCTACAGGCGGAGCCTCTG	0.657000													16	66					0	0	1	0	0
DPYSL4	10570	broad.mit.edu	37	10	134006240	134006240	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:134006240C>T	ENST00000338492.4	+	3	371	c.207C>T	c.(205-207)ggC>ggT	p.G69G	DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368629.1_5'UTR	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	69					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.G69G(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-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;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TTCCTGGTGGCGTTGACGTCC	0.582000													16	75					0	0	1	0	0
ADCK3	56997	broad.mit.edu	37	1	227149098	227149098	+	Silent	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:227149098A>T	ENST00000366779.1	+	7	2783	c.12A>T	c.(10-12)atA>atT	p.I4I	ADCK3_ENST00000366775.1_5'UTR|ADCK3_ENST00000366778.1_Intron|ADCK3_ENST00000366777.3_Silent_p.I4I|ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000366776.1_Silent_p.I4I|ADCK3_ENST00000478406.1_Intron			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	4					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						TGGCTGCCATATTGGGAGACA	0.602000													19	84					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56659037	56659037	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:56659037C>T	ENST00000389934.3	-	20	3343	c.3226G>A	c.(3226-3228)Gaa>Aaa	p.E1076K	TEX14_ENST00000240361.8_Missense_Mutation_p.E1082K|TEX14_ENST00000349033.5_Intron	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1082						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTTAAAAATTCATCTGTTATA	0.358000													7	80					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130647695	130647695	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:130647695G>A	ENST00000539839.1	+	1	692	c.110G>A	c.(109-111)cGa>cAa	p.R37Q	FZD10_ENST00000229030.4_Missense_Mutation_p.E70K	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0	FZ.				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CCAGTTGCACGAGTTCGCGCC	0.622000													7	67					0	0	1	0	0
ZNF37BP	100129482	broad.mit.edu	37	10	43019176	43019176	+	RNA	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:43019176G>A	ENST00000473592.1	-	0	2383																											ATCCCTAAATGACACTGATCC	0.448000													4	50					0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233246399	233246399	+	Missense_Mutation	SNP	C	C	G	rs2981374		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:233246399C>G	ENST00000392027.2	+	11	1771	c.1502C>G	c.(1501-1503)cCc>cGc	p.P501R		NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	501						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.P501R(1)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CTGGCGCCCCCCGCCGGCACC	0.731000													4	13					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534952	92534952	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:92534952G>A	ENST00000298047.6	+	9	8790	c.8773G>A	c.(8773-8775)Gcg>Acg	p.A2925T	FAT3_ENST00000525166.1_Missense_Mutation_p.A2775T|FAT3_ENST00000409404.2_Missense_Mutation_p.A2925T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2925	Cadherin 27.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.A2925T(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACCAGTCTTCGCGCAGGAAGT	0.562000										TCGA Ovarian(4;0.039)			16	93					0	0	1	0	0
EHD1	10938	broad.mit.edu	37	11	64645664	64645664	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:64645664C>T	ENST00000320631.3	-	1	527	c.273G>A	c.(271-273)gaG>gaA	p.E91E	EHD1_ENST00000359393.2_Silent_p.E91E	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	91					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CGGTGGTGGGCTCGGGCCCGA	0.687000													8	57					0	0	1	0	0
KLRC2	3822	broad.mit.edu	37	12	10587093	10587093	+	Missense_Mutation	SNP	G	G	A	rs143264024	byFrequency	TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:10587093G>A	ENST00000381902.2	-	3	329	c.323C>T	c.(322-324)aCg>aTg	p.T108M	KLRC2_ENST00000536833.2_Missense_Mutation_p.T49M|NKG2-E_ENST00000539033.1_Missense_Mutation_p.T108M|KLRC2_ENST00000381901.1_Intron	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	108					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity	p.T108M(1)		kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						ACCTTTCTGCGTTCTTGTATT	0.284000													14	115					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35974294	35974294	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:35974294T>C	ENST00000297866.5	+	8	1457	c.1391T>C	c.(1390-1392)aTt>aCt	p.I464T		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	464										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AAGGGCAAGATTACTGGAGGG	0.358000													7	27					0	0	1	0	0
TTF1	7270	broad.mit.edu	37	9	135277990	135277990	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:135277990A>G	ENST00000334270.2	-	2	258	c.219T>C	c.(217-219)tgT>tgC	p.C73C		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	73	N-terminal region (NRD) (By similarity).				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CAGTCTCATCACAGATTCTGG	0.408000													23	90					0	0	1	0	0
PTP4A3	11156	broad.mit.edu	37	8	142441045	142441045	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:142441045C>G	ENST00000520105.1	+	5	1291	c.348C>G	c.(346-348)atC>atG	p.I116M	PTP4A3_ENST00000524028.1_Missense_Mutation_p.I55M|PTP4A3_ENST00000521578.1_Missense_Mutation_p.I141M|PTP4A3_ENST00000349124.1_Missense_Mutation_p.I116M|PTP4A3_ENST00000329397.1_Missense_Mutation_p.I141M			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	141	Tyrosine-protein phosphatase.					early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			GCGGAGCCATCAACAGCAAGC	0.592000													10	45					0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4431958	4431958	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:4431958G>A	ENST00000301280.5	+	12	2058	c.1957G>A	c.(1957-1959)Gac>Aac	p.D653N	CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	653	Necessary for homodimerization and competence for chromatin assembly.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGTGTGCCGACCCTGAGAA	0.557000								Chromatin Structure					14	122					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21765114	21765114	+	Silent	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:21765114G>T	ENST00000382254.1	-	12	2574	c.1488C>A	c.(1486-1488)gcC>gcA	p.A496A	CDH12_ENST00000522262.1_Silent_p.A456A|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Silent_p.A496A|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	496	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A496A(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTTCACACACGGCTGTCTCAT	0.363000										HNSCC(59;0.17)			17	103					0.00074312	0.000774668	1	1	0
MED13L	23389	broad.mit.edu	37	12	116424069	116424069	+	Splice_Site	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:116424069A>T	ENST00000281928.3	-	19	4545		c.e19+1			NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like						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)		TAACTTCCTCACCTCGTATAC	0.408000													12	56					0	0	1	0	0
CLCN3	1182	broad.mit.edu	37	4	170611783	170611783	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:170611783T>C	ENST00000513761.1	+	6	1268	c.709T>C	c.(709-711)Tgt>Cgt	p.C237R	CLCN3_ENST00000504131.2_Missense_Mutation_p.C220R|CLCN3_ENST00000347613.4_Missense_Mutation_p.C237R|CLCN3_ENST00000360642.3_Missense_Mutation_p.C237R	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	237					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TCCATATGCCTGTGGCTCTGG	0.368000													14	53					0	0	1	0	0
SGK3	23678	broad.mit.edu	37	8	67740918	67740918	+	Silent	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:67740918G>C	ENST00000396596.1	+	7	661	c.447G>C	c.(445-447)ctG>ctC	p.L149L	SGK3_ENST00000521198.2_Silent_p.L149L|SGK3_ENST00000345714.4_Silent_p.L149L|SGK3_ENST00000522398.1_Silent_p.L149L|SGK3_ENST00000520976.1_Silent_p.L149L|C8orf44-SGK3_ENST00000519289.1_Silent_p.L149L	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	149					cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ACATCAACCTGGGACCGTCTG	0.323000													11	122					0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307068	39307068	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:39307068G>T	ENST00000541347.1	-	2	1172	c.933C>A	c.(931-933)tgC>tgA	p.C311*	CX3CR1_ENST00000399220.2_Nonsense_Mutation_p.C311*|CX3CR1_ENST00000358309.3_Nonsense_Mutation_p.C343*|CX3CR1_ENST00000542107.1_Nonsense_Mutation_p.C311*	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	311					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GGACAGCCAGGCATTTCCCAT	0.478000													37	111					9.80977e-26	1.19612e-25	1	1	0
UGT3A1	133688	broad.mit.edu	37	5	35965906	35965906	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:35965906A>G	ENST00000274278.3	-	4	782	c.425T>C	c.(424-426)gTa>gCa	p.V142A	UGT3A1_ENST00000507113.1_Missense_Mutation_p.V108A|UGT3A1_ENST00000503189.1_Missense_Mutation_p.V142A|UGT3A1_ENST00000333811.4_Missense_Mutation_p.V88A|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	142						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCAACAAATACCAGATCATA	0.373000													19	67					0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122437794	122437794	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:122437794C>T	ENST00000474629.2	+	14	5062	c.4796C>T	c.(4795-4797)aCg>aTg	p.T1599M	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1599	WWE.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CAGCGCCTCACGAAATCCAAA	0.393000													8	24					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146720638	146720638	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:146720638C>T	ENST00000392299.2	+	8	2933	c.2463C>T	c.(2461-2463)ctC>ctT	p.L821L	GRM1_ENST00000355289.4_Silent_p.L821L|GRM1_ENST00000282753.1_Silent_p.L821L|GRM1_ENST00000492807.2_Silent_p.L821L|GRM1_ENST00000361719.2_Silent_p.L821L|GRM1_ENST00000507907.1_Silent_p.L821L			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	821					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CAGTGAGTCTCAGTGTAACAG	0.483000													15	97					0	0	1	0	0
SLC25A32	81034	broad.mit.edu	37	8	104412681	104412681	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:104412681G>A	ENST00000297578.4	-	7	1072	c.906C>T	c.(904-906)aaC>aaT	p.N302N	SLC25A32_ENST00000543107.1_Silent_p.N170N	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	302					folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	AATGTGAGACGTTTTCATATA	0.398000													11	106					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33635705	33635705	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr13:33635705T>A	ENST00000380099.3	+	4	2497	c.2489T>A	c.(2488-2490)gTg>gAg	p.V830E	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	830	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TACCTAGAAGTGCAAGAAATG	0.463000													21	70					0	0	1	0	0
MAGEB4	4115	broad.mit.edu	37	X	30260575	30260575	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:30260575C>T	ENST00000378982.2	+	1	519	c.323C>T	c.(322-324)tCt>tTt	p.S108F		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	108										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CTCAAAGATTCTCTAACCAGG	0.443000													7	22					0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77951111	77951111	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:77951111C>A	ENST00000393684.3	-	3	420	c.29G>T	c.(28-30)aGg>aTg	p.R10M	ISM2_ENST00000342219.4_Missense_Mutation_p.R98M|ISM2_ENST00000412904.1_Missense_Mutation_p.R98M|ISM2_ENST00000493585.1_Missense_Mutation_p.R98M|ISM2_ENST00000429906.1_Intron			Q6H9L7	ISM2_HUMAN	isthmin 2	98						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CTCTGGGGTCCTGGGAGGGGT	0.617000													11	54					0.000673444	0.000702448	1	1	0
HCK	3055	broad.mit.edu	37	20	30689156	30689156	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:30689156G>T	ENST00000534862.1	+	14	1718	c.1355G>T	c.(1354-1356)cGt>cTt	p.R452L	HCK_ENST00000518730.1_Missense_Mutation_p.R450L|HCK_ENST00000520553.1_Missense_Mutation_p.R451L|HCK_ENST00000375862.2_Missense_Mutation_p.R471L|HCK_ENST00000375852.2_Missense_Mutation_p.R472L|HCK_ENST00000538448.1_Missense_Mutation_p.R451L	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	472	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GCTCTGGAGCGTGGATACCGG	0.572000													10	51					7.48243e-07	8.26808e-07	1	1	0
TRPV5	56302	broad.mit.edu	37	7	142605941	142605941	+	Silent	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:142605941T>A	ENST00000265310.1	-	15	2277	c.1929A>T	c.(1927-1929)cgA>cgT	p.R643R		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	643					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					AGCGAAGCACTCGCAGAGGAT	0.527000													12	37					0	0	1	0	0
CTBP2	1488	broad.mit.edu	37	10	126714833	126714833	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:126714833G>A	ENST00000309035.6	-	1	1626	c.1496C>T	c.(1495-1497)gCc>gTc	p.A499V	CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000411419.2_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CAGCGGAGAGGCGGCCACGTT	0.701000													7	60					0	0	1	0	0
SGCD	6444	broad.mit.edu	37	5	155771529	155771529	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:155771529A>G	ENST00000435422.3	+	2	518	c.31A>G	c.(31-33)Agc>Ggc	p.S11G	SGCD_ENST00000447401.1_Missense_Mutation_p.S12G|SGCD_ENST00000517913.1_Missense_Mutation_p.S12G|SGCD_ENST00000337851.4_Missense_Mutation_p.S12G	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	11					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCACCACCGGAGCACCATGCC	0.478000													15	73					0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1818718	1818718	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:1818718C>T	ENST00000170168.4	-	9	2983	c.2889G>A	c.(2887-2889)aaG>aaA	p.K963K		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	963						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTGGGCCTCTTCTCCTCAG	0.677000													7	42					0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148865014	148865014	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:148865014G>T	ENST00000367467.3	+	18	2883	c.2408G>T	c.(2407-2409)gGt>gTt	p.G803V		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	803							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GACCCACCTGGTGTGACTGGT	0.587000													32	170					3.90053e-15	4.66585e-15	1	1	0
ALPK1	80216	broad.mit.edu	37	4	113352044	113352044	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:113352044T>C	ENST00000458497.1	+	11	1620	c.1341T>C	c.(1339-1341)caT>caC	p.H447H	ALPK1_ENST00000177648.9_Silent_p.H447H|ALPK1_ENST00000504176.2_Silent_p.H369H	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	447							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TTATCTTGCATGGGCAAGGGG	0.393000													7	74					0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9362421	9362421	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:9362421C>G	ENST00000456448.1	+	1	816	c.702C>G	c.(700-702)ttC>ttG	p.F234L		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						GGATCCTTTTCTCTTACTATA	0.443000													3	29					0	0	1	0	0
EPOR	2057	broad.mit.edu	37	19	11492777	11492777	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:11492777C>T	ENST00000592375.2	-	3	360	c.256G>A	c.(256-258)Gag>Aag	p.E86K	EPOR_ENST00000222139.6_Missense_Mutation_p.E86K			P19235	EPOR_HUMAN	erythropoietin receptor	86						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	TTCCATGGCTCATCCCTATGC	0.657000													16	33					0	0	1	0	0
COQ3	51805	broad.mit.edu	37	6	99824025	99824025	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:99824025T>C	ENST00000254759.3	-	5	544	c.520A>G	c.(520-522)Atc>Gtc	p.I174V	COQ3_ENST00000479163.1_5'UTR|COQ3_ENST00000369242.1_Intron|COQ3_ENST00000369240.1_Intron	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	174					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		ACAGGGTCGATTCCAATAACT	0.413000													20	86					0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151261667	151261667	+	Silent	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:151261667C>T	ENST00000368879.2	+	4	2489	c.2391C>T	c.(2389-2391)tgC>tgT	p.C797C		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	797					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCCCATCTGCCCCATGGCCT	0.612000													6	120					0	0	1	0	0
ZNHIT1	10467	broad.mit.edu	37	7	100865910	100865910	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:100865910G>A	ENST00000305105.2	+	2	576	c.48G>A	c.(46-48)cgG>cgA	p.R16R	ZNHIT1_ENST00000492315.1_3'UTR	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN	zinc finger, HIT-type containing 1	16							metal ion binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					CCGGGCAGCGGCGGGTGCTGG	0.677000													8	84					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160757957	160757957	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:160757957C>T	ENST00000274547.2	-	9	1227	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	GABRB2_ENST00000517547.1_Missense_Mutation_p.R177H|GABRB2_ENST00000520240.1_Missense_Mutation_p.R337H|GABRB2_ENST00000353437.6_Missense_Mutation_p.R337H|GABRB2_ENST00000517901.1_Missense_Mutation_p.R274H|GABRB2_ENST00000393959.1_Missense_Mutation_p.R337H	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	337					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTTCTTTTGGCGTTGGGGCCC	0.507000													25	104					0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11221369	11221369	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:11221369G>A	ENST00000558518.1	+	7	1169	c.982G>A	c.(982-984)Gtc>Atc	p.V328I	LDLR_ENST00000455727.2_Missense_Mutation_p.V160I|LDLR_ENST00000558013.1_Missense_Mutation_p.V328I|LDLR_ENST00000535915.1_Missense_Mutation_p.V287I|LDLR_ENST00000545707.1_Missense_Mutation_p.V201I|LDLR_ENST00000557933.1_Missense_Mutation_p.V328I	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	328	EGF-like 1.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CTGTTCCCACGTCTGCAATGA	0.627000													18	57					0	0	1	0	0
NR4A2	4929	broad.mit.edu	37	2	157185855	157185855	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:157185855C>A	ENST00000339562.4	-	3	1206	c.844G>T	c.(844-846)Ggc>Tgc	p.G282C	NR4A2_ENST00000409108.2_Missense_Mutation_p.G282C|NR4A2_ENST00000539077.1_Missense_Mutation_p.G293C|NR4A2_ENST00000409572.1_Missense_Mutation_p.G282C|NR4A2_ENST00000429376.1_Missense_Mutation_p.G219C|NR4A2_ENST00000426264.1_Missense_Mutation_p.G219C	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	282					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CCTTTGCAGCCCTCACAGGTG	0.677000													5	14					3.59834e-05	3.86504e-05	1	1	0
HERC1	8925	broad.mit.edu	37	15	63930647	63930647	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:63930647A>G	ENST00000443617.2	-	63	12143	c.12056T>C	c.(12055-12057)gTa>gCa	p.V4019A		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4019					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGCTGCAGGTACCATTACATT	0.443000													21	79					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55027404	55027404	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:55027404C>A	ENST00000371336.3	+	5	1373	c.1172C>A	c.(1171-1173)cCa>cAa	p.P391Q	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Missense_Mutation_p.P391Q	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	391	Ser-rich.				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						ACAACTTCCCCATCTCCTGAA	0.542000													11	41					0.0809354	0.0817678	1	1	0
TENM3	55714	broad.mit.edu	37	4	183601769	183601769	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:183601769G>T	ENST00000511685.1	+	10	1836	c.1713G>T	c.(1711-1713)aaG>aaT	p.K571N	TENM3_ENST00000406950.2_Missense_Mutation_p.K571N|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		GCGGCTGGAAGGGCACCGAGT	0.547000													5	60					0.014758	0.0149955	1	1	0
VGLL1	51442	broad.mit.edu	37	X	135630823	135630823	+	Missense_Mutation	SNP	A	A	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:135630823A>C	ENST00000370634.3	+	3	460	c.290A>C	c.(289-291)aAc>aCc	p.N97T		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial like 1 (Drosophila)	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					CCTGTCACAAACCGTGCCGCC	0.532000													66	102					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94539823	94539823	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:94539823G>A	ENST00000289495.5	+	1	614	c.398G>A	c.(397-399)gGc>gAc	p.G133D	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.G133D|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.G133D|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.G133D|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.G133D|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.G133D	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	133	Actin-binding.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ATGTACGATGGCCCTTCATAT	0.403000										HNSCC(28;0.073)			5	128					0	0	1	0	0
S100B	6285	broad.mit.edu	37	21	48019357	48019357	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr21:48019357G>A	ENST00000291700.4	-	3	394	c.198C>T	c.(196-198)gaC>gaT	p.D66D	S100B_ENST00000397648.1_Silent_p.D66D|S100B_ENST00000367071.4_3'UTR	NM_006272.2	NP_006263.1	P04271	S100B_HUMAN	S100 calcium binding protein B	66	EF-hand 2.				axonogenesis|cell proliferation|central nervous system development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular region|nucleus|perinuclear region of cytoplasm|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|RAGE receptor binding|S100 beta binding|tau protein binding|zinc ion binding	p.D66D(1)		endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5	Breast(49;0.247)	Lung NSC(3;0.245)		OV - Ovarian serous cystadenocarcinoma(3;1.84e-06)|Epithelial(3;4.45e-06)|all cancers(3;2.07e-05)|Colorectal(79;0.241)		CACATTCGCCGTCTCCATCAT	0.443000													11	126					0	0	1	0	0
IGHV3-16	28447	broad.mit.edu	37	14	106621953	106621953	+	RNA	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:106621953G>T	ENST00000390604.2	-	0	365																											TGCAGATACAGGGAGTTCCTG	0.522000													35	192					1.62565e-12	1.9161e-12	1	1	0
TAOK2	9344	broad.mit.edu	37	16	29994920	29994920	+	Missense_Mutation	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:29994920T>C	ENST00000308893.4	+	13	2400	c.1357T>C	c.(1357-1359)Tcc>Ccc	p.S453P	TAOK2_ENST00000279394.3_Missense_Mutation_p.S453P|TAOK2_ENST00000543033.1_Missense_Mutation_p.S453P|TAOK2_ENST00000416441.2_Missense_Mutation_p.S280P	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	453					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CACCACCTCTTCCGCCCGCCG	0.637000													106	394					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136575322	136575322	+	Silent	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:136575322A>G	ENST00000264162.2	-	6	1306	c.1296T>C	c.(1294-1296)agT>agC	p.S432S		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	432	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCTTGTGGTAACTGTCGCTGG	0.652000													18	106					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	102051466	102051466	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr13:102051466C>A	ENST00000251127.6	-	2	93	c.12G>T	c.(10-12)agG>agT	p.R4S	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Missense_Mutation_p.R4S|NALCN_ENST00000376196.3_Missense_Mutation_p.R4S	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	4						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AACTCTGCTTCCTTTTGAGCA	0.463000													15	29					3.27435e-08	3.68495e-08	1	1	0
PCDHB3	56132	broad.mit.edu	37	5	140480871	140480871	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:140480871C>A	ENST00000231130.2	+	1	638	c.638C>A	c.(637-639)aCc>aAc	p.T213N	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		213	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTAACGCTCACCGCGCTGGAC	0.567000													15	81					0.0242445	0.0246064	1	1	0
CDKN1B	1027	broad.mit.edu	37	12	12870831	12870831	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:12870831C>T	ENST00000228872.4	+	1	774	c.58C>T	c.(58-60)Cag>Tag	p.Q20*	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Nonsense_Mutation_p.Q20*	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	20					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		GGACGCCAGGCAGGCGGAGCA	0.622000													25	82					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112545896	112545896	+	Splice_Site	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:112545896A>G	ENST00000341068.3	-	39	5486	c.4712_splice	c.e39-1	p.Y1572_splice		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1572					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CTCAAAGAGTACCTGCAAAGT	0.438000													7	62					0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139233918	139233918	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:139233918T>A	ENST00000450536.2	-	16	2529	c.1955A>T	c.(1954-1956)cAt>cTt	p.H652L	REPS1_ENST00000409812.2_Missense_Mutation_p.H561L|REPS1_ENST00000367663.4_Missense_Mutation_p.H625L|REPS1_ENST00000415951.2_Missense_Mutation_p.H625L|REPS1_ENST00000258062.5_Missense_Mutation_p.H651L			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	652	Interaction with RALBP1 (By similarity).					coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GACTTCTGGATGTTTCTCGGC	0.448000													22	99					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28358240	28358240	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:28358240G>A	ENST00000261609.7	-	92	14317	c.14209C>T	c.(14209-14211)Cgg>Tgg	p.R4737W		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4737	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCTCGGCCCCGGAAGTCGGCG	0.657000													8	36					0	0	1	0	0
TSPAN3	10099	broad.mit.edu	37	15	77345214	77345214	+	Missense_Mutation	SNP	C	C	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:77345214C>G	ENST00000267970.4	-	5	763	c.490G>C	c.(490-492)Gaa>Caa	p.E164Q	TSPAN3_ENST00000424443.3_Missense_Mutation_p.E100Q|TSPAN3_ENST00000561277.1_5'UTR|TSPAN3_ENST00000559494.1_Missense_Mutation_p.E75Q|TSPAN3_ENST00000346495.2_Missense_Mutation_p.E139Q|TSPAN3_ENST00000558745.1_5'UTR	NM_001168412.1|NM_005724.5|NM_198902.2	NP_001161884.1|NP_005715.1|NP_944492.1	O60637	TSN3_HUMAN	tetraspanin 3	164						integral to membrane		p.E164*(1)		kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	10				all cancers(203;1.14e-19)		TTTTTGGTTTCTTTGAACCAA	0.443000													6	27					0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223567028	223567028	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:223567028C>T	ENST00000366875.3	+	1	314	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	71	Arg-rich.							p.R71G(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CCCGCGGCCTCGCAGGCGCGG	0.726000													3	11					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140264145	140264145	+	Silent	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:140264145G>T	ENST00000289272.2	+	1	2292	c.2292G>T	c.(2290-2292)ccG>ccT	p.P764P	PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.P764P|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGGGCCCGCATAAGACGG	0.642000													11	47					3.86212e-05	4.14083e-05	1	1	0
RGS12	6002	broad.mit.edu	37	4	3419254	3419254	+	Missense_Mutation	SNP	G	G	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:3419254G>T	ENST00000336727.3	+	9	3651	c.2747G>T	c.(2746-2748)gGg>gTg	p.G916V	RGS12_ENST00000538395.1_Missense_Mutation_p.G258V|RGS12_ENST00000344733.5_Missense_Mutation_p.G916V|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.G916V|RGS12_ENST00000338806.4_Missense_Mutation_p.G268V|RGS12_ENST00000306648.7_Missense_Mutation_p.G314V	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	916						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGGGAGCACGGGGACCACGCA	0.667000													11	44					0.000978159	0.00101669	1	1	0
SMC4	10051	broad.mit.edu	37	3	160142723	160142723	+	Silent	SNP	A	A	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:160142723A>C	ENST00000357388.3	+	16	2845	c.2394A>C	c.(2392-2394)gtA>gtC	p.V798V	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Silent_p.V798V|SMC4_ENST00000469762.1_Silent_p.V773V|SMC4_ENST00000360111.2_Silent_p.V798V|SMC4_ENST00000344722.5_Silent_p.V798V	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	798					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AACAGAAAGTACAACTTGAAG	0.363000													13	63					0	0	1	0	0
NIF3L1	60491	broad.mit.edu	37	2	201768359	201768359	+	Silent	SNP	T	T	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:201768359T>C	ENST00000409020.1	+	7	1386	c.1092T>C	c.(1090-1092)atT>atC	p.I364I	NIF3L1_ENST00000409357.1_Silent_p.I364I|NIF3L1_ENST00000409588.1_3'UTR|NIF3L1_ENST00000416651.1_Silent_p.I364I|NIF3L1_ENST00000359683.4_Silent_p.I337I			Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	364					positive regulation of transcription, DNA-dependent		transcription factor binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						AGATAAATATTATCCTATCAG	0.398000													13	72					0	0	1	0	0
KIAA1279	26128	broad.mit.edu	37	10	70775878	70775878	+	Silent	SNP	G	G	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:70775878G>C	ENST00000361983.4	+	7	1674	c.1572G>C	c.(1570-1572)ctG>ctC	p.L524L		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	524					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						TAGACTCCCTGAGAGACCCAA	0.413000													25	72					0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58572946	58572946	+	Splice_Site	SNP	A	A	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:58572946A>T	ENST00000506786.1	+	3	461		c.e3-1		ZNF135_ENST00000511556.1_Splice_Site|ZNF135_ENST00000439855.2_Splice_Site|ZNF135_ENST00000359978.6_Splice_Site|ZNF135_ENST00000401053.4_Splice_Site|ZNF135_ENST00000313434.5_Splice_Site			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135						regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GTGATGTTTCAGGAGCAAGTG	0.597000													8	60					0	0	1	0	0
NSUN6	221078	broad.mit.edu	37	10	18834913	18834913	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:18834913C>A	ENST00000377304.4	-	11	1777	c.1359G>T	c.(1357-1359)aaG>aaT	p.K453N		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	453							methyltransferase activity|RNA binding			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						CTATAGAGTCCTTATTAGCCA	0.423000													38	162					8.73648e-17	1.05147e-16	1	1	0
CAMSAP1	157922	broad.mit.edu	37	9	138709898	138709898	+	Missense_Mutation	SNP	C	C	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:138709898C>A	ENST00000389532.4	-	14	4260	c.4196G>T	c.(4195-4197)gGc>gTc	p.G1399V	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.G1121V|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.G1410V|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1399						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CAGGCTGGAGCCTGACTGAGT	0.607000													3	33					0.014758	0.0149955	1	1	0
ST6GAL1	6480	broad.mit.edu	37	3	186760714	186760714	+	Missense_Mutation	SNP	C	C	T	rs151284888		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:186760714C>T	ENST00000169298.3	+	4	897	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C	ST6GAL1_ENST00000448044.1_Missense_Mutation_p.R75C|ST6GAL1_ENST00000457772.2_Intron	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	75					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CCACAGGGGCCGCCAGACCCT	0.562000													16	97					0	0	1	0	0
MMAA	166785	broad.mit.edu	37	4	146560479	146560479	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:146560479G>A	ENST00000281317.5	+	2	1398	c.188G>A	c.(187-189)aGa>aAa	p.R63K	MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	63						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGCTTAAAGAGAAAATTATGT	0.398000													10	96					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7173260	7173260	+	Missense_Mutation	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:7173260G>A	ENST00000406697.1	+	10	1485	c.857G>A	c.(856-858)cGc>cAc	p.R286H	C1S_ENST00000402681.3_Missense_Mutation_p.R119H|C1S_ENST00000328916.3_Missense_Mutation_p.R286H|C1S_ENST00000360817.5_Missense_Mutation_p.R286H			P09871	C1S_HUMAN	complement component 1, s subcomponent	286	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TGGAAACTTCGCTATCATGGA	0.438000													20	57					0	0	1	0	0
HOXA3	3200	broad.mit.edu	37	7	27147656	27147656	+	Silent	SNP	G	G	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:27147656G>A	ENST00000396352.4	-	3	1409	c.1210C>T	c.(1210-1212)Ctg>Ttg	p.L404L	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Silent_p.L404L	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	404					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CCGCTGCCCAGCGGCCCGGCA	0.677000													6	47					0	0	1	0	0
ENTPD7	57089	broad.mit.edu	37	10	101455815	101455815	+	Missense_Mutation	SNP	G	G	A	rs139305536		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:101455815G>A	ENST00000370489.4	+	9	1124	c.946G>A	c.(946-948)Gga>Aga	p.G316R		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	316						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		TCTGGGTTTCGGAGGCAACTT	0.453000													7	75					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157668356	157668356	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:157668356T>A	ENST00000368184.3	-	4	407	c.116A>T	c.(115-117)aAa>aTa	p.K39I	FCRL3_ENST00000368186.5_Missense_Mutation_p.K39I	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	39	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GAGAGCCACTTTTTCTCCTTT	0.453000													23	79					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96797768	96797768	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:96797768C>T	ENST00000359933.4	-	11	2568	c.1675G>A	c.(1675-1677)Gat>Aat	p.D559N		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	559										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GACTTAAAATCTTCTGTTGAA	0.378000													11	99					0	0	1	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37945985	37945985	+	Missense_Mutation	SNP	C	C	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:37945985C>T	ENST00000373087.6	+	3	654	c.538C>T	c.(538-540)Cca>Tca	p.P180S		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	180					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGTGTTTGTGCCATCCTGGAG	0.617000													6	52					0	0	1	0	0
CD300LF	146722	broad.mit.edu	37	17	72694573	72694573	+	Missense_Mutation	SNP	A	A	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:72694573A>G	ENST00000326165.6	-	4	605	c.494T>C	c.(493-495)aTa>aCa	p.I165T	CD300LF_ENST00000581500.1_Missense_Mutation_p.I183T|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000464910.1_Missense_Mutation_p.I168T|CD300LF_ENST00000469092.1_Intron|CD300LF_ENST00000583937.1_Missense_Mutation_p.I180T|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000343125.4_Intron|CD300LF_ENST00000361254.4_Missense_Mutation_p.I183T|CD300LF_ENST00000301573.9_Silent_p.H180H	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	165						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CAGCAGCAATATGGTGAAGAT	0.572000													6	37					0	0	1	0	0
INIP	58493	broad.mit.edu	37	9	115449906	115449906	+	Missense_Mutation	SNP	T	T	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:115449906T>A	ENST00000374242.4	-	5	532	c.227A>T	c.(226-228)cAt>cTt	p.H76L	INIP_ENST00000374234.1_Missense_Mutation_p.M16L|INIP_ENST00000497712.2_5'UTR|INIP_ENST00000374238.1_Missense_Mutation_p.M16L|INIP_ENST00000374236.1_Missense_Mutation_p.H46L	NM_021218.1	NP_067041.1			INTS3 and NABP interacting protein																		TGAATGTGCATGAGCATGCTG	0.368000													8	71					0	0	1	0	0
RPL22	6146	broad.mit.edu	37	1	6257785	6257785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:6257785delT	ENST00000234875.4	-	2	82	c.44delA	c.(43-45)agfs	p.K16fs	RPL22_ENST00000497965.1_5'UTR|RPL22_ENST00000484532.1_5'UTR	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	16					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome	p.K15fs*5(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AACTTGCTTCTTTTTTTTGCC	0.398			T	RUNX1	"""AML, CML"""								8	19	---	---	---	---					
SPEN	23013	broad.mit.edu	37	1	16260194	16260194	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:16260194delG	ENST00000375759.3	+	11	7663	c.7459delG	c.(7459-7461)ggfs	p.G2488fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2488	Pro-rich.|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGTCGCCTCTGGGGGGATCCC	0.597													13	143	---	---	---	---					
UBR4	23352	broad.mit.edu	37	1	19536586	19536586	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:19536586delC	ENST00000375267.2	-	1	160	c.157delG	c.(157-159)tgfs	p.V53fs	UBR4_ENST00000375217.2_Frame_Shift_Del_p.V53fs|UBR4_ENST00000375254.3_Frame_Shift_Del_p.V53fs|UBR4_ENST00000375226.2_Frame_Shift_Del_p.V53fs			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	53					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACTGAGGCCACCAGCTGCGGC	0.701													2	4	---	---	---	---					
RLF	6018	broad.mit.edu	37	1	40705722	40705724	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:40705722_40705724delAAG	ENST00000372771.4	+	8	5375_5377	c.5348_5350delAAG	c.(5347-5352)aaa>a	p.KE1783del		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1783					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGTGAAGAGAAAGAAGATGATTT	0.345													8	119	---	---	---	---					
HIVEP3	59269	broad.mit.edu	37	1	42048867	42048868	+	Frame_Shift_Ins	INS	-	-	G	rs151333512		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:42048867_42048868insG	ENST00000372584.1	-	3	2615_2616	c.1601_1602insC	c.(1600-1602)cgtfs	p.R534fs	HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.R534fs|HIVEP3_ENST00000372583.1_Frame_Shift_Ins_p.R534fs|HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.R534fs	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	534	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGAGAGGCACAGGGGGGGCGGT	0.594													8	91	---	---	---	---					
KIF2C	11004	broad.mit.edu	37	1	45221909	45221909	+	Splice_Site	DEL	G	G	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:45221909delG	ENST00000372217.1	+	9	1166	c.815_splice	c.e9+1	p.R272_splice	KIF2C_ENST00000372218.4_Splice_Site_p.R285_splice|KIF2C_ENST00000372222.3_Splice_Site_p.R213_splice|KIF2C_ENST00000372224.4_Splice_Site_p.R326_splice|KIF2C_ENST00000493027.1_3'UTR			Q99661	KIF2C_HUMAN	kinesin family member 2C	326	Kinesin-motor.				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					GTTGTCTACAGGTTAGTCCCT	0.438													46	194	---	---	---	---					
SPATA1	100505741	broad.mit.edu	37	1	84988201	84988201	+	RNA	DEL	T	T	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:84988201delT	ENST00000370638.2	+	0	526									spermatogenesis associated 1											breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		GTAAGTTTTCTTTTTTTTTCT	0.323													9	59	---	---	---	---					
RP11-435B5.5	0	broad.mit.edu	37	1	143391923	143391924	+	RNA	DEL	AT	AT	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:143391923_143391924delAT	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							TATTTTGGAGATATATATATAT	0.262													4	6	---	---	---	---					
BCL9	607	broad.mit.edu	37	1	147092052	147092053	+	Frame_Shift_Ins	INS	-	-	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:147092052_147092053insC	ENST00000234739.3	+	8	2831_2832	c.2091_2092insC	c.(2089-2094)atccccfs	p.IP697fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	697	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CAAAAGGAATTCCCCCACAGAT	0.525			T	"""IGH@, IGL@"""	B-ALL								11	82	---	---	---	---					
PPOX	5498	broad.mit.edu	37	1	161140288	161140288	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:161140288delC	ENST00000367999.4	+	10	1343	c.1077delC	c.(1075-1077)agfs	p.S359fs	PPOX_ENST00000544598.1_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000352210.5_Frame_Shift_Del_p.S359fs|PPOX_ENST00000432542.2_Frame_Shift_Del_p.S104fs|PPOX_ENST00000495483.1_3'UTR	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	359					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGGACGGGAGCCCCCCTGGCC	0.547													26	117	---	---	---	---					
F5	2153	broad.mit.edu	37	1	169529810	169529810	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:169529810delG	ENST00000367796.3	-	4	769	c.568delC	c.(568-570)tgfs	p.L191fs	F5_ENST00000546081.1_Frame_Shift_Del_p.L54fs|F5_ENST00000367797.3_Frame_Shift_Del_p.L191fs			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	191	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CAGATAAGCAGGGGCCCAATC	0.478													11	120	---	---	---	---					
BRINP2	57795	broad.mit.edu	37	1	177250524	177250525	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:177250524_177250525insT	ENST00000361539.4	+	8	2524_2525	c.2212_2213insT	c.(2212-2214)tgafs	p.*738fs	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		738						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CAAAGTCCGACTTGACCTTTTC	0.550													15	101	---	---	---	---					
TEDDM1	127670	broad.mit.edu	37	1	182369544	182369545	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:182369544_182369545insT	ENST00000367565.1	-	1	206_207	c.76_77insA	c.(76-78)agcfs	p.S26fs		NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN	transmembrane epididymal protein 1	26						integral to membrane				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						TCCATAGGCTATTTTCCACAGC	0.475													7	154	---	---	---	---					
ASPM	259266	broad.mit.edu	37	1	197070101	197070102	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:197070101_197070102insT	ENST00000367409.4	-	18	8535_8536	c.8279_8280insA	c.(8278-8280)agtfs	p.S2760fs	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2760	IQ 31.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CCTCTGATACATTTTTCAATTT	0.351													25	138	---	---	---	---					
UBE2T	29089	broad.mit.edu	37	1	202304824	202304824	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:202304824delG	ENST00000367274.4	-	2	208	c.59delC	c.(58-60)cafs	p.P20fs		NM_014176.3	NP_054895.1	Q9NPD8	UBE2T_HUMAN	ubiquitin-conjugating enzyme E2T (putative)	20					DNA repair|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	nucleoplasm	ATP binding|ubiquitin-protein ligase activity	p.P20fs*20(1)		large_intestine(1)|lung(3)|skin(1)	5						TGTGATGCCTGGGGGTGGCTC	0.473													18	141	---	---	---	---					
SLC26A9	115019	broad.mit.edu	37	1	205884287	205884287	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:205884287delC	ENST00000367134.2	-	22	2510	c.2397delG	c.(2395-2397)ggfs	p.G799fs	SLC26A9_ENST00000340781.4_Frame_Shift_Del_p.G799fs|SLC26A9_ENST00000367135.3_3'UTR	NM_134325.2	NP_599152.2	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	0						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AAGGGTAGCACCCCCCTGCTG	0.632													8	74	---	---	---	---					
PTPN14	5784	broad.mit.edu	37	1	214557490	214557491	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:214557490_214557491insT	ENST00000366956.5	-	13	1901_1902	c.1707_1708insA	c.(1705-1710)ccacccfs	p.P570fs	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	570	Poly-Pro.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGCCGTGGGTAGGGGGGCGGTG	0.653													10	90	---	---	---	---					
TRIM17	51127	broad.mit.edu	37	1	228596935	228596935	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:228596935delG	ENST00000366697.2	-	5	1777	c.821delC	c.(820-822)cafs	p.P274fs	TRIM17_ENST00000295033.3_Frame_Shift_Del_p.P274fs|TRIM17_ENST00000456946.2_Frame_Shift_Del_p.P274fs|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366698.2_Frame_Shift_Del_p.P274fs			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	274					protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				GGGTCTGGTTGGGGGGGCAAC	0.582													13	233	---	---	---	---					
NLRP3	114548	broad.mit.edu	37	1	247588106	247588106	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr1:247588106delG	ENST00000366497.2	+	4	2141	c.1361delG	c.(1360-1362)cgfs	p.R454fs	NLRP3_ENST00000348069.2_Frame_Shift_Del_p.R454fs|NLRP3_ENST00000391827.2_Frame_Shift_Del_p.R454fs|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Frame_Shift_Del_p.R454fs|NLRP3_ENST00000391828.3_Frame_Shift_Del_p.R454fs|NLRP3_ENST00000366496.2_Frame_Shift_Del_p.R454fs	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	454	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTGCAGCCCCGGGGAGGGAGC	0.592													8	79	---	---	---	---					
KCNF1	3754	broad.mit.edu	37	2	11053164	11053164	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:11053164delC	ENST00000295082.1	+	1	1102	c.612delC	c.(610-612)atfs	p.I204fs		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	204						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		TGGGCACCATCCCCGAGCTGC	0.672													11	51	---	---	---	---					
UGP2	7360	broad.mit.edu	37	2	64114558	64114561	+	Frame_Shift_Del	DEL	TCAT	TCAT	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:64114558_64114561delTCAT	ENST00000337130.5	+	8	1570_1573	c.1094_1097delTCAT	c.(1093-1098)gtfs	p.VI365fs	UGP2_ENST00000467648.2_Frame_Shift_Del_p.VI354fs|UGP2_ENST00000445915.2_Frame_Shift_Del_p.VI374fs|UGP2_ENST00000394417.2_Frame_Shift_Del_p.VI354fs	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	365					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						GGCCTGAATGTCATTCAATTAGAA	0.412													20	94	---	---	---	---					
ZNF638	27332	broad.mit.edu	37	2	71650549	71650549	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:71650549delA	ENST00000409544.1	+	22	4535	c.3905delA	c.(3904-3906)gafs	p.E1302fs	ZNF638_ENST00000409407.1_Frame_Shift_Del_p.E242fs|ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000264447.4_Frame_Shift_Del_p.E1302fs	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1302	Glu-rich.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AATATTTCTGAAAAAAAAGGT	0.368													8	59	---	---	---	---					
IGKV6D-41	28869	broad.mit.edu	37	2	90108750	90108751	+	RNA	INS	-	-	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:90108750_90108751insT	ENST00000390271.2	+	0	75																											TAAGCAGATGCTTATATTGTGC	0.386													8	31	---	---	---	---					
POTEJ	653781	broad.mit.edu	37	2	131414272	131414272	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:131414272delA	ENST00000409602.1	+	15	1991	c.1939delA	c.(1939-1941)aafs	p.K649fs		NM_001277083.1	NP_001264012.1			POTE ankyrin domain family, member J											lung(5)	5						TGAAAGTGTGAAAAAAAAGAA	0.403													9	46	---	---	---	---					
GRB14	2888	broad.mit.edu	37	2	165381579	165381580	+	Frame_Shift_Ins	INS	-	-	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:165381579_165381580insA	ENST00000263915.3	-	5	1150_1151	c.612_613insT	c.(610-615)ttcagafs	p.R205fs	GRB14_ENST00000543549.1_Frame_Shift_Ins_p.R118fs	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	205					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						ATATGCTCTGGAAAAAAATACT	0.267													14	105	---	---	---	---					
HOXD8	3234	broad.mit.edu	37	2	176995417	176995417	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:176995417delC	ENST00000313173.4	+	1	950	c.323delC	c.(322-324)gcfs	p.A108fs	HOXD8_ENST00000548663.1_Intron|HOXD8_ENST00000544999.1_Frame_Shift_Del_p.A108fs|HOXD8_ENST00000429017.1_Intron|HOXD8_ENST00000450510.2_Frame_Shift_Del_p.A108fs|HOXD-AS2_ENST00000440016.2_RNA	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	108					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		TACCAGGCCGccccccctcct	0.741													24	68	---	---	---	---					
DNAH7	56171	broad.mit.edu	37	2	196750934	196750934	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:196750934delA	ENST00000312428.6	-	34	5569	c.5469delT	c.(5467-5469)ttfs	p.F1823fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1823					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AATCATCCATAAAACAGTCTA	0.363													18	70	---	---	---	---					
MAP2	4133	broad.mit.edu	37	2	210558734	210558734	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:210558734delA	ENST00000360351.4	+	7	2346	c.1840delA	c.(1840-1842)aafs	p.K614fs	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Frame_Shift_Del_p.K610fs|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	614					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TCCCATGCATAAAAATGGTGA	0.448													22	71	---	---	---	---					
CCDC108	255101	broad.mit.edu	37	2	219892687	219892687	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr2:219892687delG	ENST00000341552.5	-	13	1979	c.1896delC	c.(1894-1896)ccfs	p.P632fs	CCDC108_ENST00000409865.3_Frame_Shift_Del_p.P621fs|CCDC108_ENST00000410037.1_Frame_Shift_Del_p.P567fs|CCDC108_ENST00000453220.1_Frame_Shift_Del_p.P632fs|CCDC108_ENST00000441968.1_Frame_Shift_Del_p.P632fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	632						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTCGGTCATGGGGGGGATAT	0.597													30	138	---	---	---	---					
TOP2B	7155	broad.mit.edu	37	3	25668746	25668747	+	Frame_Shift_Ins	INS	-	-	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:25668746_25668747insA	ENST00000435706.2	-	16	2133_2134	c.1932_1933insT	c.(1930-1935)ttctgafs	p.*645fs	TOP2B_ENST00000264331.4_Frame_Shift_Ins_p.*650fs			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	650					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TCCATATCAGCAAAATATTCCT	0.327													41	110	---	---	---	---					
BSN	8927	broad.mit.edu	37	3	49695611	49695611	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:49695611delG	ENST00000296452.4	+	5	8736	c.8622delG	c.(8620-8622)cafs	p.Q2874fs		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2874					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACCAGCACCAGGGGGGACTGG	0.652													8	56	---	---	---	---					
PDE12	201626	broad.mit.edu	37	3	57542768	57542770	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:57542768_57542770delCTT	ENST00000311180.8	+	1	765_767	c.662_664delCTT	c.(661-666)cct>c	p.PS221del	PDE12_ENST00000487257.1_In_Frame_Del_p.PS221del	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	221							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CCCTCCTCACCTTCTTCTTCTTG	0.616													42	130	---	---	---	---					
TBC1D23	55773	broad.mit.edu	37	3	100014012	100014012	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:100014012delT	ENST00000394144.4	+	6	689	c.682delT	c.(682-684)ttfs	p.F229fs	TBC1D23_ENST00000344949.5_Frame_Shift_Del_p.F229fs|TBC1D23_ENST00000475134.1_Frame_Shift_Del_p.F92fs|TBC1D23_ENST00000486274.1_3'UTR	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	229						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						AGCAGATCCATTTTTTATTTA	0.333													23	81	---	---	---	---					
SLC35A5	55032	broad.mit.edu	37	3	112299856	112299856	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:112299856delT	ENST00000492406.1	+	6	1175	c.892delT	c.(892-894)ttfs	p.F299fs	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	299						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						GAACTGTGGATTTTTTTATGG	0.413													16	71	---	---	---	---					
ZBTB20	26137	broad.mit.edu	37	3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:114058003delG	ENST00000462705.1	-	12	2677	c.1856delC	c.(1855-1857)ctfs	p.P619fs	ZBTB20_ENST00000474710.1_Frame_Shift_Del_p.P692fs|ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.P619fs	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P619fs*43(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632													14	89	---	---	---	---					
HGD	3081	broad.mit.edu	37	3	120357337	120357338	+	Frame_Shift_Ins	INS	-	-	C	rs34214309		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:120357337_120357338insC	ENST00000283871.5	-	12	1429_1430	c.970_971insG	c.(970-972)tgcfs	p.C324fs		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	324					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CTTATCAGCAACCCCCCATCGA	0.480													19	126	---	---	---	---					
ATP2C1	27032	broad.mit.edu	37	3	130686015	130686016	+	Frame_Shift_Ins	INS	-	-	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:130686015_130686016insG	ENST00000510168.1	+	15	1699_1700	c.1149_1150insG	c.(1147-1152)ttgggafs	p.LG383fs	ATP2C1_ENST00000359644.3_Frame_Shift_Ins_p.LG383fs|ATP2C1_ENST00000513801.1_Frame_Shift_Ins_p.LG367fs|ATP2C1_ENST00000533801.2_Frame_Shift_Ins_p.LG378fs|ATP2C1_ENST00000393221.4_Frame_Shift_Ins_p.LG417fs|ATP2C1_ENST00000428331.2_Frame_Shift_Ins_p.LG383fs|ATP2C1_ENST00000328560.8_Frame_Shift_Ins_p.LG383fs|ATP2C1_ENST00000507488.2_Frame_Shift_Ins_p.LG367fs|ATP2C1_ENST00000504948.1_Frame_Shift_Ins_p.LG367fs|ATP2C1_ENST00000505330.1_Frame_Shift_Ins_p.LG367fs|ATP2C1_ENST00000504381.1_Frame_Shift_Ins_p.LG328fs|ATP2C1_ENST00000508532.1_Frame_Shift_Ins_p.LG383fs|ATP2C1_ENST00000422190.2_Frame_Shift_Ins_p.LG383fs			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	383					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	p.G384W(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	ATAATCAATTTGGGGAAGTGAT	0.361									Hailey-Hailey disease				59	233	---	---	---	---					
ZBBX	79740	broad.mit.edu	37	3	167068281	167068283	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:167068281_167068283delTCT	ENST00000392766.2	-	9	793_795	c.453_455delAGA	c.(451-456)gat>ga	p.ED151del	ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_In_Frame_Del_p.ED151del|ZBBX_ENST00000455345.2_In_Frame_Del_p.ED151del|ZBBX_ENST00000392764.1_In_Frame_Del_p.ED122del|ZBBX_ENST00000307529.5_In_Frame_Del_p.ED151del	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	151						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGAACAATAATCTTCTCCACATT	0.310													33	129	---	---	---	---					
ACTL6A	86	broad.mit.edu	37	3	179288016	179288016	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr3:179288016delA	ENST00000429709.2	+	3	477	c.264delA	c.(262-264)ctfs	p.L88fs	ACTL6A_ENST00000392662.1_Frame_Shift_Del_p.L46fs|ACTL6A_ENST00000450518.2_Frame_Shift_Del_p.L46fs	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	88					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			TTTCACCTCTAAAAAATGGGA	0.398													19	82	---	---	---	---					
FAM193A	8603	broad.mit.edu	37	4	2661593	2661593	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:2661593delC	ENST00000324666.5	+	8	1035	c.684delC	c.(682-684)gafs	p.D228fs	FAM193A_ENST00000545951.1_Frame_Shift_Del_p.D228fs|FAM193A_ENST00000502458.1_Frame_Shift_Del_p.D252fs|FAM193A_ENST00000382839.3_Frame_Shift_Del_p.D228fs|FAM193A_ENST00000505311.1_Frame_Shift_Del_p.D228fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GTATCATGGACCCCCCCGTCA	0.522													21	132	---	---	---	---					
LIMCH1	22998	broad.mit.edu	37	4	41621388	41621389	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:41621388_41621389insAG	ENST00000313860.7	+	8	920_921	c.866_867insAG	c.(865-867)ggafs	p.G289fs	LIMCH1_ENST00000512946.1_Frame_Shift_Ins_p.G289fs|LIMCH1_ENST00000512632.1_Frame_Shift_Ins_p.G289fs|LIMCH1_ENST00000508501.1_Frame_Shift_Ins_p.G289fs|LIMCH1_ENST00000513024.1_Frame_Shift_Ins_p.G130fs|LIMCH1_ENST00000514096.1_Frame_Shift_Ins_p.G142fs|LIMCH1_ENST00000381753.4_Frame_Shift_Ins_p.G135fs|LIMCH1_ENST00000396595.3_Frame_Shift_Ins_p.G135fs|LIMCH1_ENST00000512820.1_Frame_Shift_Ins_p.G289fs|LIMCH1_ENST00000511496.1_Frame_Shift_Ins_p.G130fs|LIMCH1_ENST00000503057.1_Frame_Shift_Ins_p.G130fs|LIMCH1_ENST00000509454.1_Frame_Shift_Ins_p.G137fs|LIMCH1_ENST00000509277.1_Frame_Shift_Ins_p.G135fs|LIMCH1_ENST00000509638.1_Frame_Shift_Ins_p.G130fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	289					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						AAGAAGAAAGCAGAGAGAGAGG	0.589													11	87	---	---	---	---					
ENAM	10117	broad.mit.edu	37	4	71500204	71500204	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:71500204delA	ENST00000396073.3	+	6	671	c.390delA	c.(388-390)tcfs	p.S130fs		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	130					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGACTCAGTCAAAAAAGCCAC	0.502													7	82	---	---	---	---					
GLRB	2743	broad.mit.edu	37	4	158057766	158057766	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:158057766delA	ENST00000264428.4	+	5	713	c.443delA	c.(442-444)gafs	p.E148fs	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Frame_Shift_Del_p.E148fs|GLRB_ENST00000541722.1_Frame_Shift_Del_p.E148fs	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	148					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TTTGCAAATGAAAAAAGTGCC	0.388													15	133	---	---	---	---					
SNX25	83891	broad.mit.edu	37	4	186244751	186244752	+	Frame_Shift_Ins	INS	-	-	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr4:186244751_186244752insA	ENST00000504273.1	+	9	1348_1349	c.1054_1055insA	c.(1054-1056)aaafs	p.K352fs	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Frame_Shift_Ins_p.K352fs			Q9H3E2	SNX25_HUMAN	sorting nexin 25	352	RGS.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AATATCTGTGGAAAAATCACTT	0.322													10	54	---	---	---	---					
NIPBL	25836	broad.mit.edu	37	5	36984974	36984974	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:36984974delA	ENST00000282516.8	+	10	2191	c.1692delA	c.(1690-1692)atfs	p.I564fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.I564fs|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	564					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAGACTCCATAAAAAAGCCTG	0.413													8	171	---	---	---	---					
C6	729	broad.mit.edu	37	5	41159257	41159257	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:41159257delG	ENST00000263413.3	-	12	2047	c.1783delC	c.(1783-1785)aafs	p.Q595fs	C6_ENST00000337836.5_Frame_Shift_Del_p.Q595fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	595	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.Q595K(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCTCCTCGTTGGGGGGCAGGA	0.498													24	112	---	---	---	---					
TMEM174	134288	broad.mit.edu	37	5	72469178	72469178	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:72469178delG	ENST00000296776.5	+	1	157	c.108delG	c.(106-108)gcfs	p.A36fs	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	36						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		ATGACAAGGCGGGGGCCACCT	0.557													39	188	---	---	---	---					
FAM53C	51307	broad.mit.edu	37	5	137680720	137680720	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:137680720delA	ENST00000239906.5	+	4	771	c.343delA	c.(343-345)agfs	p.K115fs	FAM53C_ENST00000434981.2_Frame_Shift_Del_p.K115fs|FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Intron	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	115										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCCTCCATCCAAGAGGCACTG	0.652													27	92	---	---	---	---					
PCDHGB3	56102	broad.mit.edu	37	5	140750727	140750727	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:140750727delC	ENST00000576222.1	+	1	897	c.766delC	c.(766-768)ccfs	p.P256fs	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGAACCTGCCCGCTGGCTC	0.473													21	94	---	---	---	---					
IL12B	3593	broad.mit.edu	37	5	158747508	158747509	+	Frame_Shift_Ins	INS	-	-	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:158747508_158747509insC	ENST00000231228.2	-	5	957_958	c.502_503insG	c.(502-504)gacfs	p.D168fs		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	168					cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCGCACGTCACCCCTTGGGGG	0.530													9	80	---	---	---	---					
DOCK2	1794	broad.mit.edu	37	5	169129396	169129397	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:169129396_169129397insTG	ENST00000256935.8	+	14	1428_1429	c.1348_1349insTG	c.(1348-1350)gtgfs	p.V450fs		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	450	DHR-1.				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)			GGAAGTCATCATGTGTGTGTGC	0.525											OREG0017017	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	85	---	---	---	---					
AACSP1	729522	broad.mit.edu	37	5	178208198	178208198	+	RNA	DEL	C	C	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr5:178208198delC	ENST00000503486.2	-	0	647					NR_024035.1																						GCTGCTGTCTCCCCCAGACCG	0.493													7	136	---	---	---	---					
PGBD1	84547	broad.mit.edu	37	6	28268966	28268967	+	Frame_Shift_Ins	INS	-	-	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:28268966_28268967insA	ENST00000405948.2	+	7	1755_1756	c.1335_1336insA	c.(1333-1338)caaaaafs	p.QK445fs	PGBD1_ENST00000259883.3_Frame_Shift_Ins_p.QK445fs	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	445					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ATGCTTCTCAGAAAAATGTCAG	0.351													28	202	---	---	---	---					
SCAND3	114821	broad.mit.edu	37	6	28543265	28543265	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:28543265delA	ENST00000452236.2	-	3	1834	c.1217delT	c.(1216-1218)tgfs	p.L406fs		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	406	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TAATGACCGCAAAAAAGTTAA	0.373													22	95	---	---	---	---					
UNC5CL	222643	broad.mit.edu	37	6	40998232	40998232	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:40998232delG	ENST00000244565.3	-	8	1317	c.1229delC	c.(1228-1230)cafs	p.P410fs	UNC5CL_ENST00000373164.1_Frame_Shift_Del_p.P410fs|UNC5CL_ENST00000470102.1_5'UTR	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	410					signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAAGAGCTCTGGGGGCAGCCT	0.557													12	46	---	---	---	---					
CDC5L	988	broad.mit.edu	37	6	44390450	44390451	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:44390450_44390451delCT	ENST00000371477.3	+	10	1607_1608	c.1308_1309delCT	c.(1306-1311)aactfs	p.NS436fs		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	436	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGTTATTAACTCTACTCCGGG	0.460													29	92	---	---	---	---					
SMAP1	60682	broad.mit.edu	37	6	71508370	71508370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:71508370delA	ENST00000370455.3	+	6	754	c.506delA	c.(505-507)gafs	p.E169fs	SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	169					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						aaagaaaaggaaaaaaaaaag	0.289													3	6	---	---	---	---					
KCNQ5	56479	broad.mit.edu	37	6	73751713	73751714	+	Frame_Shift_Ins	INS	-	-	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:73751713_73751714insC	ENST00000342056.2	+	3	942_943	c.544_545insC	c.(544-546)gggfs	p.G182fs	KCNQ5_ENST00000414165.2_Frame_Shift_Ins_p.G182fs|KCNQ5_ENST00000403813.2_Frame_Shift_Ins_p.G182fs|KCNQ5_ENST00000402622.2_Frame_Shift_Ins_p.G182fs|KCNQ5_ENST00000370392.1_Frame_Shift_Ins_p.G182fs|KCNQ5_ENST00000370398.1_Frame_Shift_Ins_p.G182fs|KCNQ5_ENST00000355194.4_Frame_Shift_Ins_p.G182fs|KCNQ5_ENST00000355635.3_Frame_Shift_Ins_p.G182fs	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	182					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		AATCTGGTCTGCGGGTTGCTGT	0.431													65	253	---	---	---	---					
TTK	7272	broad.mit.edu	37	6	80751897	80751897	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:80751897delA	ENST00000509894.1	+	22	3378	c.2549delA	c.(2548-2550)gafs	p.E850fs	TTK_ENST00000369798.2_Frame_Shift_Del_p.E851fs|TTK_ENST00000230510.3_Frame_Shift_Del_p.E850fs			P33981	TTK_HUMAN	TTK protein kinase	851					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AAGACTTTTGAAAAAAAAAGG	0.299													14	68	---	---	---	---					
IYD	389434	broad.mit.edu	37	6	150719297	150719298	+	Frame_Shift_Ins	INS	-	-	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:150719297_150719298insG	ENST00000344419.3	+	5	934_935	c.794_795insG	c.(793-795)gggfs	p.G265fs	IYD_ENST00000229447.5_3'UTR	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	265					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		CTGCTCCCCGTGGGGTACCCCA	0.634													21	87	---	---	---	---					
IGF2R	3482	broad.mit.edu	37	6	160454136	160454136	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:160454136delT	ENST00000356956.1	+	9	1356	c.1208delT	c.(1207-1209)ccfs	p.L403fs		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	403					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AATCAGACCCTCCGGTACGTC	0.448													13	53	---	---	---	---					
PDE10A	10846	broad.mit.edu	37	6	165844962	165844963	+	Splice_Site	INS	-	-	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:165844962_165844963insA	ENST00000366882.1	-	9	818		c.e9-2		PDE10A_ENST00000539869.2_Splice_Site|PDE10A_ENST00000354448.4_Splice_Site			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A						platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TGTTGCAACCTAAAAAAAACAA	0.327													14	78	---	---	---	---					
TCP10	6953	broad.mit.edu	37	6	167786762	167786762	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr6:167786762delT	ENST00000397829.4	-	8	1043	c.876delA	c.(874-876)aafs	p.K292fs	TCP10_ENST00000366827.2_Intron	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	319						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		TTGGATGTCGTTTTTCTTCCT	0.532													11	85	---	---	---	---					
THSD7A	221981	broad.mit.edu	37	7	11468622	11468622	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:11468622delT	ENST00000423059.3	-	14	3446	c.3195delA	c.(3193-3195)aafs	p.K1065fs	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1065	TSP type-1 11.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CATTATATGGTTTTTCACGCA	0.478										HNSCC(18;0.044)			10	340	---	---	---	---					
EGFR	1956	broad.mit.edu	37	7	55238150	55238151	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:55238150_55238151delAG	ENST00000344576.2	+	16	2276_2277	c.2031_2032delAG	c.(2029-2034)tcagfs	p.SE677fs	EGFR_ENST00000454757.2_Intron|EGFR_ENST00000275493.2_Intron|EGFR_ENST00000455089.1_Intron|EGFR_ENST00000442591.1_Intron	NM_201284.1	NP_958441.1	P00533	EGFR_HUMAN	epidermal growth factor receptor	0					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TTCTGCCGTCAGAGTTTCAGCT	0.569		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			10	82	---	---	---	---					
INTS4P2	644619	broad.mit.edu	37	7	65159914	65159915	+	RNA	INS	-	-	TT			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:65159914_65159915insTT	ENST00000430126.2	+	0	1150																											TTATGTGTTTGTGTGTGTGTTA	0.381													9	16	---	---	---	---					
SRCRB4D	136853	broad.mit.edu	37	7	76023204	76023204	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:76023204delG	ENST00000275560.3	-	8	1311	c.964delC	c.(964-966)agfs	p.Q322fs		NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	322						extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						CGGGAAGGCTGGGGGCCAACT	0.667													4	7	---	---	---	---					
LRCH4	4034	broad.mit.edu	37	7	100173512	100173515	+	Frame_Shift_Del	DEL	ATGG	ATGG	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:100173512_100173515delATGG	ENST00000310300.6	-	16	1807_1810	c.1755_1758delCCAT	c.(1753-1758)atfs	p.IH585fs	LRCH4_ENST00000497245.1_Frame_Shift_Del_p.IH133fs	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	585	CH.				nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGAGGGCACATGGATGAAGGGCA	0.667													13	41	---	---	---	---					
DPY19L2P2	349152	broad.mit.edu	37	7	102902926	102902926	+	RNA	DEL	A	A	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:102902926delA	ENST00000312132.4	-	0	2401																											TTAAAACATGAAAAaaaaagg	0.383													2	4	---	---	---	---					
CPED1	79974	broad.mit.edu	37	7	120911387	120911388	+	Frame_Shift_Ins	INS	-	-	A	rs141494536	byFrequency	TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:120911387_120911388insA	ENST00000310396.5	+	22	3238_3239	c.2771_2772insA	c.(2770-2772)gaafs	p.E924fs		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		CTGGATACTGCAAAAAAACATG	0.351													15	94	---	---	---	---					
WNT16	51384	broad.mit.edu	37	7	120971879	120971879	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:120971879delG	ENST00000222462.2	+	3	784	c.494delG	c.(493-495)tgfs	p.W165fs	WNT16_ENST00000361301.2_Frame_Shift_Del_p.W155fs	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	165					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	p.C168fs*4(2)|p.G167fs*17(1)		breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					GGCTGGCACTGGGGGGGCTGC	0.532													11	62	---	---	---	---					
NUB1	51667	broad.mit.edu	37	7	151064135	151064135	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr7:151064135delA	ENST00000568733.1	+	9	1049	c.983delA	c.(982-984)gafs	p.E328fs	NUB1_ENST00000355851.4_Frame_Shift_Del_p.E304fs|NUB1_ENST00000566856.1_Frame_Shift_Del_p.E304fs|NUB1_ENST00000413040.2_Frame_Shift_Del_p.E328fs			Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	304					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GATGATGCAGAAAAAAAATTA	0.423													7	51	---	---	---	---					
DLC1	10395	broad.mit.edu	37	8	12957359	12957359	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:12957359delG	ENST00000276297.4	-	9	2896	c.2487delC	c.(2485-2487)ccfs	p.P829fs	DLC1_ENST00000520226.1_Frame_Shift_Del_p.P318fs|DLC1_ENST00000358919.2_Frame_Shift_Del_p.P392fs|DLC1_ENST00000512044.2_Frame_Shift_Del_p.P426fs	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	829					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TATTCCCCGAGGGGGAGAAAC	0.577													21	99	---	---	---	---					
HR	55806	broad.mit.edu	37	8	21984903	21984903	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:21984903delC	ENST00000381418.4	-	3	2532	c.1052delG	c.(1051-1053)gtfs	p.G351fs	HR_ENST00000312841.8_Frame_Shift_Del_p.G351fs	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	351							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TCCACTGGCACCCCCCTCCAG	0.657													7	58	---	---	---	---					
MTSS1	9788	broad.mit.edu	37	8	125597329	125597329	+	Splice_Site	DEL	T	T	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr8:125597329delT	ENST00000518547.1	-	6	932	c.460_splice	c.e6+1	p.K153_splice	MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000378017.3_Splice_Site_p.K153_splice|MTSS1_ENST00000325064.5_Splice_Site_p.K153_splice	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	153	IMD.			K -> KVDTL (in Ref. 2; AK027015).	actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AGGAGTTACCTTTTTTTGCTT	0.373													20	148	---	---	---	---					
RPS6	6194	broad.mit.edu	37	9	19378707	19378707	+	Splice_Site	DEL	T	T	-	rs34590252		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:19378707delT	ENST00000380394.4	-	3	406	c.349_splice	c.e3+1	p.K116_splice	RPS6_ENST00000315377.4_Splice_Site_p.K85_splice|RPS6_ENST00000380384.1_Splice_Site_p.K85_splice	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	116					endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		AACCCTCACCTTTTTTTACAA	0.378													7	53	---	---	---	---					
PTENP1	11191	broad.mit.edu	37	9	33676042	33676043	+	RNA	DEL	AT	AT	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:33676042_33676043delAT	ENST00000532280.1	-	0	1454_1455					NR_023917.1																						GAACATTGGAATAGTTTCAAAC	0.446													35	112	---	---	---	---					
SMC2	10592	broad.mit.edu	37	9	106885501	106885501	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr9:106885501delA	ENST00000286398.7	+	17	2533	c.2245delA	c.(2245-2247)aafs	p.K750fs	SMC2_ENST00000374787.3_Frame_Shift_Del_p.K750fs|SMC2_ENST00000374793.3_Frame_Shift_Del_p.K750fs|SMC2_ENST00000303219.8_Frame_Shift_Del_p.K750fs	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	750					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	p.T751fs*9(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AGATGCCCTTAAAAAAACCAT	0.368													7	72	---	---	---	---					
FRMD4A	55691	broad.mit.edu	37	10	13696452	13696452	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:13696452delG	ENST00000357447.2	-	23	3382	c.3014delC	c.(3013-3015)cafs	p.P1005fs	FRMD4A_ENST00000378503.1_Frame_Shift_Del_p.P1005fs|FRMD4A_ENST00000358621.4_Frame_Shift_Del_p.P990fs	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	1005	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGCTGCTTGGGGGGGTGGC	0.537													10	90	---	---	---	---					
VIM	7431	broad.mit.edu	37	10	17275658	17275658	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:17275658delT	ENST00000544301.1	+	4	1110	c.697delT	c.(697-699)ttfs	p.F233fs	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000224237.5_Frame_Shift_Del_p.F233fs	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	233	Coil 1B.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGAGATTGCCTTTTTGAAGAA	0.478													9	64	---	---	---	---					
ABI1	10006	broad.mit.edu	37	10	27040623	27040624	+	In_Frame_Ins	INS	-	-	TGG			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:27040623_27040624insTGG	ENST00000355394.4	-	11	1480_1481	c.1257_1258insCCA	c.(1255-1260)cctgga>ccCCAtgga	p.419_420PG>PHG	ABI1_ENST00000376142.2_In_Frame_Ins_p.418_419PG>PHG|ABI1_ENST00000376166.1_In_Frame_Ins_p.356_357PG>PHG|ABI1_ENST00000490841.2_In_Frame_Ins_p.239_240PG>PHG|ABI1_ENST00000346832.5_In_Frame_Ins_p.406_407PG>PHG|ABI1_ENST00000376160.1_In_Frame_Ins_p.385_386PG>PHG|ABI1_ENST00000376134.3_In_Frame_Ins_p.392_393PG>PHG|ABI1_ENST00000376170.4_In_Frame_Ins_p.361_362PG>PHG|ABI1_ENST00000376140.3_In_Frame_Ins_p.391_392PG>PHG|ABI1_ENST00000536334.1_In_Frame_Ins_p.304_305PG>PHG|ABI1_ENST00000359188.4_In_Frame_Ins_p.390_391PG>PHG|ABI1_ENST00000376137.4_In_Frame_Ins_p.333_334PG>PHG|ABI1_ENST00000376138.3_In_Frame_Ins_p.362_363PG>PHG|ABI1_ENST00000376139.2_In_Frame_Ins_p.386_387PG>PHG			Q8IZP0	ABI1_HUMAN	abl-interactor 1	418					actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCATAATCCACTGGTGGTGGTG	0.480													13	71	---	---	---	---					
FRMPD2	143162	broad.mit.edu	37	10	49381120	49381121	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:49381120_49381121delAA	ENST00000374201.3	-	25	3393_3394	c.3091_3092delTT	c.(3091-3093)afs	p.L1031fs	FRMPD2_ENST00000305531.3_Frame_Shift_Del_p.L1006fs|FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000474573.1_5'UTR|FRMPD2_ENST00000407470.4_Frame_Shift_Del_p.L999fs	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1031	PDZ 2.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TCTTCTCTCTAAGACCAGTCTT	0.485													23	37	---	---	---	---					
CASP7	840	broad.mit.edu	37	10	115481532	115481532	+	Frame_Shift_Del	DEL	A	A	-	rs72431166		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:115481532delA	ENST00000369321.2	+	5	789	c.469delA	c.(469-471)aafs	p.K158fs	CASP7_ENST00000369315.1_Frame_Shift_Del_p.K125fs|CASP7_ENST00000345633.4_Frame_Shift_Del_p.K125fs|CASP7_ENST00000452490.2_Frame_Shift_Del_p.K100fs|CASP7_ENST00000369318.3_Frame_Shift_Del_p.K125fs|CASP7_ENST00000369331.4_Frame_Shift_Del_p.K125fs	NM_033338.5	NP_203124.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	125					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		AGATCTGCTTAAAAAAGGTGA	0.512													16	68	---	---	---	---					
PDZD8	118987	broad.mit.edu	37	10	119042898	119042898	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:119042898delT	ENST00000334464.5	-	5	3585	c.3346delA	c.(3346-3348)tafs	p.I1116fs		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1116					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TACTTGCTTATTTTTTTGGAG	0.368													9	74	---	---	---	---					
C10orf120	399814	broad.mit.edu	37	10	124457494	124457495	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr10:124457494_124457495insT	ENST00000329446.4	-	3	793_794	c.762_763insA	c.(760-765)aagtttfs	p.F255fs		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	255										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TATGTTAAACATTTTTTTGGTT	0.386													20	88	---	---	---	---					
ASCL3	56676	broad.mit.edu	37	11	8959621	8959623	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:8959621_8959623delAGA	ENST00000325884.1	-	2	145_147	c.86_88delTCT	c.(85-90)tat>t	p.FY29del	ASCL3_ENST00000531618.1_In_Frame_Del_p.FY29del	NM_020646.1	NP_065697.1	Q9NQ33	ASCL3_HUMAN	achaete-scute family bHLH transcription factor 3	28					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding			breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		GGCTCCAGATAGAAGGACCTGGT	0.547													47	261	---	---	---	---					
KCNA4	3739	broad.mit.edu	37	11	30032940	30032940	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:30032940delC	ENST00000328224.6	-	2	2519	c.1286delG	c.(1285-1287)gtfs	p.G430fs		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	430						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.G429fs*53(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ACCATTGCCACCCCCCTGTTG	0.498													22	88	---	---	---	---					
FAT3	120114	broad.mit.edu	37	11	92543142	92543142	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:92543142delC	ENST00000298047.6	+	12	9398	c.9381delC	c.(9379-9381)aafs	p.N3127fs	FAT3_ENST00000409404.2_Frame_Shift_Del_p.N3127fs|FAT3_ENST00000525166.1_Frame_Shift_Del_p.N2977fs			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3127	Cadherin 28.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAATGATAACCCCCCTGTGT	0.547										TCGA Ovarian(4;0.039)			8	51	---	---	---	---					
ATM	472	broad.mit.edu	37	11	108114808	108114808	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr11:108114808delT	ENST00000278616.4	+	6	1010	c.625delT	c.(625-627)ttfs	p.F209fs	ATM_ENST00000452508.2_Frame_Shift_Del_p.F209fs	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	209					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AAATTCCAAATTTTTGGACTT	0.343			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			8	54	---	---	---	---					
DCP1B	196513	broad.mit.edu	37	12	2064700	2064701	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:2064700_2064701insT	ENST00000280665.6	-	6	627_628	c.548_549insA	c.(547-549)aatfs	p.N183fs	DCP1B_ENST00000397173.4_Frame_Shift_Ins_p.N81fs|DCP1B_ENST00000540622.1_Frame_Shift_Ins_p.N57fs|DCP1B_ENST00000541700.1_Intron	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	183					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			AACTGGTTATCTTTTTTGGCTC	0.381													32	135	---	---	---	---					
CCND2	894	broad.mit.edu	37	12	4383349	4383351	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:4383349_4383351delAGA	ENST00000261254.3	+	1	412_414	c.143_145delAGA	c.(142-147)cag>c	p.QK48del	RP11-264F23.4_ENST00000537370.1_RNA|RP11-264F23.3_ENST00000539135.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	48	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			AAGTGCGTGCAGAAGGACATCCA	0.645			T	IGL@	"""NHL,CLL"""								12	118	---	---	---	---					
LAG3	3902	broad.mit.edu	37	12	6883896	6883896	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:6883896delC	ENST00000203629.2	+	4	980	c.647delC	c.(646-648)tcfs	p.S216fs	LAG3_ENST00000441671.2_Frame_Shift_Del_p.S216fs	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	216	Ig-like C2-type 1.					integral to membrane	antigen binding|MHC class II protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GTCCGGGAGTCCCCCCATCAC	0.632													11	87	---	---	---	---					
ATF7IP	55729	broad.mit.edu	37	12	14576874	14576874	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:14576874delA	ENST00000544627.1	+	2	369	c.49delA	c.(49-51)aafs	p.K18fs	ATF7IP_ENST00000543189.1_Frame_Shift_Del_p.K10fs|ATF7IP_ENST00000536444.1_Frame_Shift_Del_p.K10fs|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000261168.4_Frame_Shift_Del_p.K10fs|ATF7IP_ENST00000540793.1_Frame_Shift_Del_p.K10fs			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	10					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AGAACCTCAGAAAAAAGTCTT	0.353													8	53	---	---	---	---					
GUCY2C	2984	broad.mit.edu	37	12	14778829	14778829	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:14778829delT	ENST00000261170.3	-	21	2406	c.2270delA	c.(2269-2271)atfs	p.N757fs		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	757					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						ATAGCTTTCATTTTTTTGGTC	0.358													18	68	---	---	---	---					
ABCC9	10060	broad.mit.edu	37	12	22065947	22065947	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:22065947delG	ENST00000261200.4	-	6	869	c.870delC	c.(868-870)tafs	p.Y290fs	ABCC9_ENST00000261201.4_Frame_Shift_Del_p.Y290fs|ABCC9_ENST00000345162.2_Frame_Shift_Del_p.Y290fs	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	290					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAAAAGCTCTGTACATTGCAA	0.368													16	95	---	---	---	---					
LINC00477	144360	broad.mit.edu	37	12	24736562	24736562	+	RNA	DEL	A	A	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:24736562delA	ENST00000483544.1	-	0	540					NR_029451.2																						CTTAAGAAGGAAAAAAAGGGG	0.557													16	80	---	---	---	---					
ITPR2	3709	broad.mit.edu	37	12	26647141	26647142	+	Frame_Shift_Ins	INS	-	-	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:26647141_26647142insA	ENST00000381340.3	-	39	5730_5731	c.5314_5315insT	c.(5314-5316)agafs	p.R1772fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1772					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AATGCCTTCTGAAAAAATTCTG	0.381													7	68	---	---	---	---					
ALG10	84920	broad.mit.edu	37	12	34178900	34178900	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:34178900delT	ENST00000266483.2	+	3	791	c.472delT	c.(472-474)ttfs	p.F159fs	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	159					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				AGGATCTATGTTTTTTACTCT	0.333													37	175	---	---	---	---					
KCNH3	23416	broad.mit.edu	37	12	49948320	49948320	+	Frame_Shift_Del	DEL	G	G	-	rs143761616		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:49948320delG	ENST00000257981.6	+	11	2379	c.2119delG	c.(2119-2121)ggfs	p.G709fs		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	709					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCTGGGTGCTGGGGGAGGCTC	0.657													16	61	---	---	---	---					
GALNT6	11226	broad.mit.edu	37	12	51751177	51751178	+	Frame_Shift_Ins	INS	-	-	C	rs148799204		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:51751177_51751178insC	ENST00000543196.2	-	9	1762_1763	c.1557_1558insG	c.(1555-1560)ggagccfs	p.A520fs	GALNT6_ENST00000356317.3_Frame_Shift_Ins_p.A520fs			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	520	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ATGAGGGGCTTCCCCCCGCGGT	0.599													13	77	---	---	---	---					
KRT83	3889	broad.mit.edu	37	12	52708514	52708514	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:52708514delG	ENST00000293670.3	-	9	1445	c.1383delC	c.(1381-1383)ccfs	p.P461fs		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	461	Tail.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCCGTTGCAGGGGGCACTGC	0.667													5	4	---	---	---	---					
VPS37B	79720	broad.mit.edu	37	12	123351892	123351892	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr12:123351892delG	ENST00000267202.2	-	4	1010	c.629delC	c.(628-630)cafs	p.P213fs		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	213	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane		p.P211fs*>76(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		CGGGGGTGGTGGGGGGGGGAT	0.716													7	26	---	---	---	---					
CDX2	1045	broad.mit.edu	37	13	28537277	28537278	+	Frame_Shift_Ins	INS	-	-	C	rs142861632		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr13:28537277_28537278insC	ENST00000381020.7	-	3	3048_3049	c.916_917insG	c.(916-918)gctfs	p.A306fs	CDX2_ENST00000548877.1_5'UTR	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	306					organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		GGGGTTTAGCACCCCCCCAGTT	0.629			T	ETV6	AML								9	40	---	---	---	---					
CAB39L	81617	broad.mit.edu	37	13	49933935	49933937	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr13:49933935_49933937delTGT	ENST00000355854.4	-	4	805_807	c.308_310delACA	c.(307-312)atc>a	p.NI103del	CAB39L_ENST00000409308.1_In_Frame_Del_p.NI103del|CAB39L_ENST00000410043.1_In_Frame_Del_p.NI103del|CAB39L_ENST00000347776.5_In_Frame_Del_p.NI103del	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	103					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		CTTCTCAAGATGTTGTTAAATAT	0.365													19	58	---	---	---	---					
SETDB2	83852	broad.mit.edu	37	13	50065970	50065970	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr13:50065970delA	ENST00000354234.4	+	14	3015	c.2109delA	c.(2107-2109)agfs	p.R703fs	SETDB2_ENST00000317257.8_Frame_Shift_Del_p.R715fs	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	715					cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		ATAAATGTAGAAAAAAAATAT	0.373													10	46	---	---	---	---					
SLITRK1	114798	broad.mit.edu	37	13	84455184	84455184	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr13:84455184delC	ENST00000377084.2	-	1	1344	c.459delG	c.(457-459)ttfs	p.L153fs		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	153						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCAGCTTGTTCAAGTCCTGGA	0.493													10	93	---	---	---	---					
ABCC4	10257	broad.mit.edu	37	13	95899297	95899299	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr13:95899297_95899299delAAG	ENST00000376887.4	-	3	350_352	c.236_238delCTT	c.(235-240)tta>t	p.SL79del	ABCC4_ENST00000412704.1_In_Frame_Del_p.SL79del|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_In_Frame_Del_p.SL79del|ABCC4_ENST00000431522.1_In_Frame_Del_p.SL79del	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	79					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GCTCTTGTTAAAGAAGGCTTCTG	0.335													20	116	---	---	---	---					
COL4A1	1282	broad.mit.edu	37	13	110818643	110818643	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr13:110818643delT	ENST00000375820.4	-	45	4078	c.3957delA	c.(3955-3957)aafs	p.K1319fs		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1319	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CAGGAAGACCTTTTGGACCTA	0.458													16	82	---	---	---	---					
ZNF219	51222	broad.mit.edu	37	14	21559653	21559653	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:21559653delC	ENST00000360947.3	-	4	1892	c.1481delG	c.(1480-1482)gcfs	p.G494fs	ZNF219_ENST00000451119.2_Frame_Shift_Del_p.G494fs|ZNF219_ENST00000421093.2_Frame_Shift_Del_p.G494fs|RP11-998D10.7_ENST00000554733.2_lincRNA	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	494					negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GCCGGTGGCGCCCCGGCCCCC	0.597													32	98	---	---	---	---					
NYNRIN	57523	broad.mit.edu	37	14	24878810	24878811	+	Frame_Shift_Ins	INS	-	-	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:24878810_24878811insA	ENST00000382554.3	+	4	2128_2129	c.1810_1811insA	c.(1810-1812)aaafs	p.K604fs		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	604					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGCCACAGCTCAAAAAACAGTT	0.505													7	17	---	---	---	---					
GPR135	64582	broad.mit.edu	37	14	59930553	59930554	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:59930553_59930554insT	ENST00000395116.1	-	1	1506_1507	c.1391_1392insA	c.(1390-1392)accfs	p.T464fs		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	464						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		GTACAACTGGATTTTTGCGGGC	0.604													8	33	---	---	---	---					
CLMN	79789	broad.mit.edu	37	14	95670103	95670103	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:95670103delG	ENST00000298912.4	-	9	1696	c.1583delC	c.(1582-1584)cafs	p.P528fs		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	528						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		ATTTTCTCCTGGGGGTGAAAG	0.453													23	77	---	---	---	---					
PACS2	23241	broad.mit.edu	37	14	105818795	105818797	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr14:105818795_105818797delCTC	ENST00000447393.1	+	3	463_465	c.288_290delCTC	c.(286-291)ttc>tt	p.FS96del	PACS2_ENST00000547217.1_Intron|PACS2_ENST00000430725.2_In_Frame_Del_p.FS29del|PACS2_ENST00000325438.8_In_Frame_Del_p.FS96del|PACS2_ENST00000458164.2_In_Frame_Del_p.FS96del	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	96					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CCCTGACCTTCTCCTTGCAGGTG	0.616											OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	132	---	---	---	---					
CASC5	57082	broad.mit.edu	37	15	40917795	40917796	+	Frame_Shift_Ins	INS	-	-	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:40917795_40917796insA	ENST00000346991.5	+	11	5801_5802	c.5411_5412insA	c.(5410-5412)aaafs	p.K1804fs	CASC5_ENST00000399668.2_Frame_Shift_Ins_p.K1778fs			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1804					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAAAAAATCAGAAAAAATGAGA	0.332													7	44	---	---	---	---					
MAP1A	4130	broad.mit.edu	37	15	43820928	43820929	+	Frame_Shift_Ins	INS	-	-	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:43820928_43820929insG	ENST00000382031.1	+	5	8002_8003	c.7971_7972insG	c.(7969-7974)tcggggfs	p.SG2657fs	MAP1A_ENST00000399453.1_Frame_Shift_Ins_p.SG2419fs|MAP1A_ENST00000300231.5_Frame_Shift_Ins_p.SG2419fs			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2419						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CAGGGGGCTCCGGGGGCCCACC	0.683													11	40	---	---	---	---					
UNC13C	440279	broad.mit.edu	37	15	54841835	54841836	+	Frame_Shift_Ins	INS	-	-	C	rs138044314	by1000genomes	TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:54841835_54841836insC	ENST00000545554.1	+	27	5823_5824	c.5823_5824insC	c.(5821-5826)ggcccafs	p.GP1941fs	UNC13C_ENST00000260323.11_Frame_Shift_Ins_p.GP1941fs|UNC13C_ENST00000537900.1_Frame_Shift_Ins_p.GP1939fs			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1941	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTTTCTAGGGACCCCAGATGAT	0.317													10	100	---	---	---	---					
SNX1	6642	broad.mit.edu	37	15	64418397	64418398	+	Frame_Shift_Ins	INS	-	-	C	rs1130604	byFrequency	TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:64418397_64418398insC	ENST00000353874.4	+	6	666_667	c.630_631insC	c.(628-633)ccccccfs	p.PP210fs	SNX1_ENST00000559844.1_Frame_Shift_Ins_p.PP210fs|SNX1_ENST00000261889.5_Frame_Shift_Ins_p.PP210fs|SNX1_ENST00000561026.1_Frame_Shift_Ins_p.PP145fs|SNX1_ENST00000560829.1_Intron			Q13596	SNX1_HUMAN	sorting nexin 1	210	PX.				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						TTGTCCCTCCGCCCCCGGAGAA	0.436													11	56	---	---	---	---					
UBE2Q2	92912	broad.mit.edu	37	15	76161303	76161305	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:76161303_76161305delAGA	ENST00000267938.4	+	4	781_783	c.399_401delAGA	c.(397-402)aca>ac	p.TE133del	UBE2Q2_ENST00000561851.1_In_Frame_Del_p.TE117del|UBE2Q2_ENST00000569423.1_In_Frame_Del_p.TE98del|UBE2Q2_ENST00000338677.4_In_Frame_Del_p.TE133del	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	133					protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						ATGGGACAACAGAAGAAGTGACT	0.365													7	64	---	---	---	---					
IL16	3603	broad.mit.edu	37	15	81592626	81592627	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr15:81592626_81592627delCT	ENST00000394660.2	+	14	3319_3320	c.2959_2960delCT	c.(2959-2961)cfs	p.L987fs	IL16_ENST00000302987.4_Frame_Shift_Del_p.L987fs|IL16_ENST00000394652.2_Frame_Shift_Del_p.L286fs	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	987					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GACCAGCAAACTCTATTCTATC	0.545													10	83	---	---	---	---					
AXIN1	8312	broad.mit.edu	37	16	396621	396623	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:396621_396623delCTC	ENST00000262320.3	-	2	774_776	c.403_405delGAG	c.(403-405)del	p.E135del	AXIN1_ENST00000354866.3_In_Frame_Del_p.E135del|AXIN1_ENST00000481769.1_Intron	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	135	RGS.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TCAGCCTCTTCTCCTCGTTCGAG	0.547											OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	24	105	---	---	---	---					
SRRM2	23524	broad.mit.edu	37	16	2819185	2819187	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:2819185_2819187delTCC	ENST00000301740.8	+	12	8470_8472	c.7921_7923delTCC	c.(7921-7923)del	p.S2648del	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2648	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ctcctcatcttcctcctcctcgt	0.591													23	120	---	---	---	---					
ARL6IP1	23204	broad.mit.edu	37	16	18804606	18804609	+	Frame_Shift_Del	DEL	GTTT	GTTT	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:18804606_18804609delGTTT	ENST00000304414.7	-	6	788_791	c.577_580delAAAC	c.(577-582)ttfs	p.KL193fs	ARL6IP1_ENST00000546206.2_Frame_Shift_Del_p.KL164fs|RP11-1035H13.3_ENST00000567078.2_Intron|ARL6IP1_ENST00000562819.1_Frame_Shift_Del_p.KL78fs	NM_015161.1	NP_055976.1	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting protein 1	193						integral to membrane	protein binding			breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)	11						TGTTTGAGAAGTTTGTTTATCTCC	0.363													12	67	---	---	---	---					
RRN3P1	730092	broad.mit.edu	37	16	21814068	21814068	+	RNA	DEL	A	A	-	rs58942468		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:21814068delA	ENST00000546471.1	-	0	1607																											AAGGGGGGGGAAAAAAGAATA	0.388													7	36	---	---	---	---					
GTF3C1	2975	broad.mit.edu	37	16	27504015	27504015	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:27504015delC	ENST00000356183.4	-	18	2911	c.2896delG	c.(2896-2898)tgfs	p.V966fs	GTF3C1_ENST00000561623.1_Frame_Shift_Del_p.V966fs	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	966						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AGGTTCTCCACCACCGAAAAA	0.552													20	137	---	---	---	---					
TUFM	7284	broad.mit.edu	37	16	28855558	28855559	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:28855558_28855559delCA	ENST00000313511.3	-	7	1052_1053	c.914_915delTG	c.(913-915)gfs	p.V306fs		NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	303						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						AACCTGTCACCACAGTGCGGAT	0.579													10	105	---	---	---	---					
DOC2A	8448	broad.mit.edu	37	16	30021353	30021353	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:30021353delG	ENST00000350119.4	-	2	381	c.191delC	c.(190-192)ctfs	p.P64fs	DOC2A_ENST00000564944.1_Frame_Shift_Del_p.P64fs|DOC2A_ENST00000564979.1_Frame_Shift_Del_p.P64fs	NM_003586.2	NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	64	Interaction with UNC13D and DYNLT1.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						GAGGGCTGCAGGGGGGGCCAG	0.701													15	48	---	---	---	---					
SEPT1	1731	broad.mit.edu	37	16	30392448	30392450	+	Splice_Site	DEL	CTT	CTT	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:30392448_30392450delCTT	ENST00000321367.3	-	7	742_744	c.699_splice	c.e7+1	p.K233_splice	SEPT1_ENST00000571393.1_Splice_Site_p.K186_splice|SEPT1_ENST00000605106.1_Splice_Site_p.K191_splice	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	septin 1	186					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			TCACTCACACCTTCTGCTTGAGG	0.522													37	145	---	---	---	---					
ARMC5	79798	broad.mit.edu	37	16	31471223	31471224	+	Frame_Shift_Ins	INS	-	-	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:31471223_31471224insA	ENST00000457010.2	+	1	1079_1080	c.378_379insA	c.(376-381)cgagacfs	p.D127fs	ARMC5_ENST00000268314.4_Frame_Shift_Ins_p.D127fs|ARMC5_ENST00000538189.1_Frame_Shift_Ins_p.D159fs|ARMC5_ENST00000563544.1_Frame_Shift_Ins_p.D127fs|ARMC5_ENST00000408912.3_Frame_Shift_Ins_p.D222fs	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	127							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TGCGCCTGCGCAAGACGCTGGA	0.688													10	54	---	---	---	---					
GPR97	222487	broad.mit.edu	37	16	57719704	57719704	+	Frame_Shift_Del	DEL	G	G	-	rs150741729	by1000genomes	TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:57719704delG	ENST00000333493.4	+	11	1567	c.1406delG	c.(1405-1407)cgfs	p.R469fs	GPR97_ENST00000450388.3_Frame_Shift_Del_p.R349fs|GPR97_ENST00000327655.6_Frame_Shift_Del_p.R259fs|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	469					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTCAAGGAGCGGGGGAAGAAC	0.622													18	76	---	---	---	---					
NDRG4	65009	broad.mit.edu	37	16	58537754	58537754	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:58537754delC	ENST00000394282.4	+	4	637	c.230delC	c.(229-231)tcfs	p.S77fs	NDRG4_ENST00000566192.1_Frame_Shift_Del_p.S25fs|NDRG4_ENST00000569923.1_5'UTR|NDRG4_ENST00000570248.1_Frame_Shift_Del_p.S25fs|NDRG4_ENST00000562999.1_Frame_Shift_Del_p.S25fs|NDRG4_ENST00000568640.1_Frame_Shift_Del_p.S43fs|NDRG4_ENST00000563799.1_Frame_Shift_Del_p.S25fs|NDRG4_ENST00000356752.4_Frame_Shift_Del_p.S55fs|NDRG4_ENST00000258187.5_Frame_Shift_Del_p.S57fs|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000394279.2_Frame_Shift_Del_p.S57fs	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	25					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm		p.S57C(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						ATCCGGGGCTCCCCCAAGGGG	0.622													10	72	---	---	---	---					
CMTR2	55783	broad.mit.edu	37	16	71318557	71318558	+	Frame_Shift_Ins	INS	-	-	T	rs144614650		TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr16:71318557_71318558insT	ENST00000338099.5	-	3	1602_1603	c.1266_1267insA	c.(1264-1269)aactagfs	p.N*422fs	FTSJD1_ENST00000434935.2_Frame_Shift_Ins_p.N*422fs			Q8IYT2	FTSJ1_HUMAN		422						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCAATACTAGATTTTTTTACTA	0.292													8	30	---	---	---	---					
TUSC5	286753	broad.mit.edu	37	17	1183525	1183525	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:1183525delC	ENST00000333813.3	+	1	569	c.230delC	c.(229-231)tcfs	p.S77fs		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	77					response to biotic stimulus	integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTGCCTCGGTCCCCCTCCCGG	0.657													14	83	---	---	---	---					
ALOX12	239	broad.mit.edu	37	17	6905074	6905076	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:6905074_6905076delGAG	ENST00000251535.6	+	8	1158_1160	c.1105_1107delGAG	c.(1105-1107)del	p.E369del	AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399540.2_3'UTR|AC027763.2_ENST00000399541.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	369	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CCTGGTGGCTGAGGTCATCGCTG	0.532													30	116	---	---	---	---					
POLR2A	5430	broad.mit.edu	37	17	7401417	7401417	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:7401417delG	ENST00000322644.6	+	8	1622	c.1223delG	c.(1222-1224)agfs	p.R408fs	POLR2A_ENST00000572844.1_Frame_Shift_Del_p.R408fs	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	408					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CTAGTGCGCAGGGGGAACAGC	0.522													25	90	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578275	7578277	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:7578275_7578277delGAG	ENST00000420246.2	-	6	704_706	c.572_574delCTC	c.(571-576)cag>c	p.PQ191del	TP53_ENST00000269305.4_In_Frame_Del_p.PQ191del|TP53_ENST00000455263.2_In_Frame_Del_p.PQ191del|TP53_ENST00000445888.2_In_Frame_Del_p.PQ191del|TP53_ENST00000413465.2_In_Frame_Del_p.PQ191del|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_In_Frame_Del_p.PQ191del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	191	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q192*(83)|p.0?(8)|p.P191del(7)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191L(2)|p.P191R(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*56(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191H(1)|p.P191P(1)|p.P191_Q192delPQ(1)|p.D186_P191delDGLAPP(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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)		ATAAGATGCTGAGGAGGGGCCAG	0.557		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)			19	52	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579420	7579420	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:7579420delG	ENST00000420246.2	-	4	399	c.267delC	c.(265-267)ccfs	p.P89fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.P89fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P89fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P89fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P89fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P89fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	89	Interaction with WWOX.		P -> L (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.S90fs*59(6)|p.A76_S90del15(3)|p.A88fs*32(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.P85fs*58(1)|p.S33fs*23(1)|p.A86fs*33(1)|p.A86fs*32(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.A88fs*52(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)		GGGGCCAGGAGGGGGCTGGTG	0.627		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)			15	91	---	---	---	---					
MYH4	4622	broad.mit.edu	37	17	10356525	10356525	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:10356525delC	ENST00000255381.2	-	24	3165	c.3055delG	c.(3055-3057)acfs	p.D1019fs	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1019					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						TTGACTTTGTCCTCCTCCATC	0.483													55	274	---	---	---	---					
AC015922.5	0	broad.mit.edu	37	17	15740846	15740846	+	RNA	DEL	A	A	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:15740846delA	ENST00000584636.1	+	0	316																											TTTGGCTTCCAAAAAATTGGA	0.423													2	4	---	---	---	---					
ZNF624	57547	broad.mit.edu	37	17	16526763	16526763	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:16526763delT	ENST00000311331.7	-	6	1528	c.1437delA	c.(1435-1437)aafs	p.K479fs		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTCTATAGGCTTTTCCACATT	0.383													9	99	---	---	---	---					
ATAD5	79915	broad.mit.edu	37	17	29185289	29185289	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:29185289delA	ENST00000321990.4	+	9	3282	c.2904delA	c.(2902-2904)ctfs	p.L968fs	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	968					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	p.K970fs*32(1)		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)				CCTTACTCCTAAAAAAACAAA	0.308													9	46	---	---	---	---					
CDK5R1	8851	broad.mit.edu	37	17	30814819	30814821	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:30814819_30814821delAAG	ENST00000313401.3	+	2	870_872	c.181_183delAAG	c.(181-183)del	p.K63del		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	63					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			CGTGTCGGCCAAGAAGAAGAACT	0.547													23	128	---	---	---	---					
TRIM37	4591	broad.mit.edu	37	17	57138430	57138431	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr17:57138430_57138431delAC	ENST00000376149.3	-	12	1424_1425	c.615_616delGT	c.(613-618)gtttfs	p.VF205fs	TRIM37_ENST00000393065.2_Frame_Shift_Del_p.VF293fs|TRIM37_ENST00000262294.7_Frame_Shift_Del_p.VF327fs|TRIM37_ENST00000393066.3_Frame_Shift_Del_p.VF327fs			O94972	TRI37_HUMAN	tripartite motif containing 37	327						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AGCTCCAGAAACACAGATAAGT	0.351									Mulibrey Nanism				9	59	---	---	---	---					
RP11-172F10.1	0	broad.mit.edu	37	18	5002533	5002533	+	RNA	DEL	A	A	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:5002533delA	ENST00000584204.1	-	0	243																											tatgttaggtaaaaaaaagtc	0.333													5	4	---	---	---	---					
NPIPB1P	729602	broad.mit.edu	37	18	11621099	11621099	+	RNA	DEL	T	T	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:11621099delT	ENST00000589395.1	-	0	39				NPIPB1P_ENST00000547442.1_RNA																							GATGAAGGTGTTTTTGCGCAA	0.502													7	72	---	---	---	---					
DSG3	1830	broad.mit.edu	37	18	29055782	29055783	+	Frame_Shift_Ins	INS	-	-	A			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:29055782_29055783insA	ENST00000257189.4	+	16	2642_2643	c.2559_2560insA	c.(2557-2562)ttaaaafs	p.LK853fs		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	853					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GACCCAAATTTAAAAAACTTGC	0.490													8	78	---	---	---	---					
TRAPPC8	22878	broad.mit.edu	37	18	29419276	29419276	+	Splice_Site	DEL	T	T	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:29419276delT	ENST00000283351.4	-	27	4317	c.3983_splice	c.e27+1	p.S1328_splice	TRAPPC8_ENST00000582539.1_Splice_Site_p.S1274_splice	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1328					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGCTCAAACCTTTTTTGATGA	0.343													16	57	---	---	---	---					
ALPK2	115701	broad.mit.edu	37	18	56278986	56278986	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr18:56278986delA	ENST00000361673.3	-	2	257	c.44delT	c.(43-45)tafs	p.L15fs		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	15	Ig-like 1.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAATGTAGATAAAAAACACAG	0.453													15	131	---	---	---	---					
ELAVL1	1994	broad.mit.edu	37	19	8046013	8046014	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:8046013_8046014insCT	ENST00000407627.2	-	3	358_359	c.229_230insAG	c.(229-231)gatfs	p.D77fs	ELAVL1_ENST00000351593.5_Frame_Shift_Ins_p.D104fs|ELAVL1_ENST00000596459.1_Frame_Shift_Ins_p.D77fs|ELAVL1_ENST00000593807.1_Frame_Shift_Ins_p.D77fs	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	77	RRM 1.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding	p.A77V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CGTGTTGATCGCTCTCTCTGCA	0.530													26	114	---	---	---	---					
PKN1	5585	broad.mit.edu	37	19	14562741	14562741	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:14562741delC	ENST00000242783.6	+	7	1236	c.1071delC	c.(1069-1071)cgfs	p.R357fs	PKN1_ENST00000342216.4_Frame_Shift_Del_p.R363fs	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	357	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	p.F360fs*2(1)		breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CAGACAGCCGCCCCCCCTTCC	0.667													7	18	---	---	---	---					
ZNF507	22847	broad.mit.edu	37	19	32873381	32873382	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:32873381_32873382delTG	ENST00000311921.3	+	5	2561_2562	c.2369_2370delTG	c.(2368-2370)cfs	p.L790fs	ZNF507_ENST00000355898.5_Frame_Shift_Del_p.L790fs|ZNF507_ENST00000544431.1_Frame_Shift_Del_p.L794fs	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	790					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					AGATGCTCTCTGTGTGGGTATG	0.401													47	270	---	---	---	---					
CEP89	84902	broad.mit.edu	37	19	33392233	33392235	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:33392233_33392235delTCT	ENST00000305768.4	-	15	1737_1739	c.1649_1651delAGA	c.(1648-1653)agc>a	p.KS550del		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	550						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						AACAGCAGGCTCTTCTTCTGCGC	0.438													33	143	---	---	---	---					
PLEKHG2	64857	broad.mit.edu	37	19	39914977	39914977	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:39914977delC	ENST00000425673.1	+	17	3442	c.3117delC	c.(3115-3117)gafs	p.D1039fs	PLEKHG2_ENST00000409794.3_Frame_Shift_Del_p.D1068fs|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Frame_Shift_Del_p.D1009fs|PLEKHG2_ENST00000378550.1_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1068					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGGCCCAGACCCTGTCTGCA	0.597													38	163	---	---	---	---					
HNRNPUL1	11100	broad.mit.edu	37	19	41811722	41811722	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:41811722delC	ENST00000392006.3	+	14	2577	c.2404delC	c.(2404-2406)ccfs	p.P803fs	HNRNPUL1_ENST00000378215.4_Frame_Shift_Del_p.P699fs|HNRNPUL1_ENST00000352456.3_Frame_Shift_Del_p.P713fs|HNRNPUL1_ENST00000602130.1_Intron|HNRNPUL1_ENST00000263367.3_Frame_Shift_Del_p.P714fs|HNRNPUL1_ENST00000593587.1_Frame_Shift_Del_p.P703fs|HNRNPUL1_ENST00000595018.1_Frame_Shift_Del_p.P703fs	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	803	Necessary for interaction with TP53.|Pro-rich.|Tyr-rich.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CCCACCGCCACCCCCCACTGC	0.637													15	65	---	---	---	---					
NUP62	23636	broad.mit.edu	37	19	50412792	50412792	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:50412792delC	ENST00000596217.1	-	2	2160	c.273delG	c.(271-273)ggfs	p.G91fs	NUP62_ENST00000597029.1_Frame_Shift_Del_p.G91fs|NUP62_ENST00000597723.1_Frame_Shift_Del_p.G91fs|CTC-326K19.6_ENST00000451973.1_3'UTR|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000422090.2_Frame_Shift_Del_p.G91fs|NUP62_ENST00000413454.1_Frame_Shift_Del_p.G91fs|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000352066.3_Frame_Shift_Del_p.G91fs			P37198	NUP62_HUMAN	nucleoporin 62kDa	91	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AAGCACCGATCCCCAAAGAAA	0.572													31	115	---	---	---	---					
SIGLEC6	946	broad.mit.edu	37	19	52033148	52033148	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:52033148delG	ENST00000346477.3	-	4	862	c.794delC	c.(793-795)ctfs	p.P265fs	SIGLEC6_ENST00000359982.4_Frame_Shift_Del_p.P292fs|SIGLEC6_ENST00000436458.1_Frame_Shift_Del_p.P229fs|SIGLEC6_ENST00000425629.3_Frame_Shift_Del_p.P281fs|SIGLEC6_ENST00000343300.4_Frame_Shift_Del_p.P281fs|SIGLEC6_ENST00000391797.3_Frame_Shift_Del_p.P270fs	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	281	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CAGGTGTGCAGGGGGGTTGCC	0.617													12	89	---	---	---	---					
MIR371B	100616185	broad.mit.edu	37	19	54291117	54291118	+	RNA	INS	-	-	GT			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:54291117_54291118insGT	ENST00000595160.1	-	0	283					NR_029864.1|NR_029865.1|NR_039909.1																						CTTGGCCGGGGCTCTTGCAGAT	0.550													7	49	---	---	---	---					
MYADM	91663	broad.mit.edu	37	19	54377065	54377065	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:54377065delC	ENST00000391769.2	+	3	562	c.282delC	c.(280-282)ttfs	p.F94fs	MYADM_ENST00000391768.2_Frame_Shift_Del_p.F94fs|MYADM_ENST00000391771.1_Frame_Shift_Del_p.F94fs|MYADM_ENST00000391770.4_Frame_Shift_Del_p.F94fs|MYADM_ENST00000336967.3_Frame_Shift_Del_p.F94fs	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	94	MARVEL 1.			Missing (in Ref. 4; BAC04265).		integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		AGGCCCGCTTCCCCCTGTCTT	0.617													10	134	---	---	---	---					
PRKCG	5582	broad.mit.edu	37	19	54401748	54401748	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:54401748delA	ENST00000263431.3	+	11	1429	c.1147delA	c.(1147-1149)aafs	p.K384fs	PRKCG_ENST00000542049.1_Frame_Shift_Del_p.K271fs|PRKCG_ENST00000540413.1_Frame_Shift_Del_p.K384fs|PRKCG_ENST00000536044.1_3'UTR	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	384	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CAAGATCTTGAAAAAGGACGT	0.617													13	60	---	---	---	---					
LILRB2	10288	broad.mit.edu	37	19	54778662	54778662	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:54778662delG	ENST00000391748.1	-	14	1796	c.1669delC	c.(1669-1671)agfs	p.Q557fs	LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000434421.1_Frame_Shift_Del_p.Q442fs|LILRB2_ENST00000314446.5_Frame_Shift_Del_p.Q557fs|LILRB2_ENST00000391749.4_Frame_Shift_Del_p.Q558fs	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	558					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTCACATCCTGGGGGGCTTCA	0.637													18	98	---	---	---	---					
KIR3DX1	90011	broad.mit.edu	37	19	55044019	55044019	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:55044019delC	ENST00000335056.3	+	1	43	c.5delC	c.(4-6)gcfs	p.A2fs																	endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GGCACCATGGCCCCCAAACTC	0.507													25	133	---	---	---	---					
ZSCAN5A	79149	broad.mit.edu	37	19	56733476	56733476	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:56733476delC	ENST00000587340.1	-	7	1654	c.959delG	c.(958-960)gcfs	p.G320fs	ZSCAN5A_ENST00000587492.1_Frame_Shift_Del_p.G174fs|ZSCAN5A_ENST00000592355.1_Frame_Shift_Del_p.G319fs|ZSCAN5A_ENST00000254165.3_Frame_Shift_Del_p.G203fs|ZSCAN5A_ENST00000391713.1_Frame_Shift_Del_p.G320fs			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	320					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTCTCTGTTGCCCACAGGTGT	0.552													18	109	---	---	---	---					
ZNF835	90485	broad.mit.edu	37	19	57175896	57175897	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr19:57175896_57175897delCA	ENST00000537055.2	-	2	901_902	c.670_671delTG	c.(670-672)cfs	p.C224fs		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						GCACTGGGCGCACGCGTAGGGC	0.708													10	27	---	---	---	---					
CTNNBL1	56259	broad.mit.edu	37	20	36361416	36361416	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:36361416delA	ENST00000405275.2	+	3	328	c.85delA	c.(85-87)aafs	p.K30fs	CTNNBL1_ENST00000361383.6_Frame_Shift_Del_p.K57fs			Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	57					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GGATGATGACAAAAAAAGGCT	0.532													7	35	---	---	---	---					
PIGT	51604	broad.mit.edu	37	20	44048000	44048001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:44048000_44048001insC	ENST00000279036.6	+	4	639_640	c.559_560insC	c.(559-561)cccfs	p.P187fs	PIGT_ENST00000279035.9_Frame_Shift_Ins_p.P85fs|PIGT_ENST00000545755.1_Intron|PIGT_ENST00000535404.1_Intron|PIGT_ENST00000341555.5_Intron|PIGT_ENST00000372689.5_Frame_Shift_Ins_p.P187fs|PIGT_ENST00000543458.2_Frame_Shift_Ins_p.P131fs	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	187					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CGAAAACCTCACCCCCTGGAAG	0.624													16	87	---	---	---	---					
ZNFX1	57169	broad.mit.edu	37	20	47865720	47865720	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr20:47865720delG	ENST00000396105.1	-	14	4087	c.3841delC	c.(3841-3843)aafs	p.Q1281fs	ZNFX1_ENST00000371752.1_Frame_Shift_Del_p.Q1281fs|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1281							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGTACTTTTTGGAAGTCAGAA	0.552													11	135	---	---	---	---					
ZDHHC8	29801	broad.mit.edu	37	22	20130522	20130522	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr22:20130522delC	ENST00000334554.7	+	10	1510	c.1369delC	c.(1369-1371)ccfs	p.P458fs	ZDHHC8_ENST00000405930.3_Frame_Shift_Del_p.P458fs|ZDHHC8_ENST00000320602.7_Frame_Shift_Del_p.P366fs	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	458						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					TGAGGGGGGGCCCCCCACGCC	0.687													12	38	---	---	---	---					
P2RX6P	440799	broad.mit.edu	37	22	21399221	21399221	+	RNA	DEL	C	C	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr22:21399221delC	ENST00000439119.1	-	0	51					NR_002829.1																						CTGCAGGGCGCCCCCCCACCA	0.597													28	124	---	---	---	---					
IGLL1	3543	broad.mit.edu	37	22	23917236	23917236	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr22:23917236delG	ENST00000330377.2	-	2	357	c.240delC	c.(238-240)ccfs	p.P80fs	IGLL1_ENST00000249053.3_Intron	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	80					immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						GCCAGCACCTGGGGCCAGTCC	0.617													7	53	---	---	---	---					
RPS19BP1	91582	broad.mit.edu	37	22	39925563	39925565	+	In_Frame_Del	DEL	CTT	CTT	-	rs146566842	by1000genomes	TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr22:39925563_39925565delCTT	ENST00000334678.3	-	4	459_461	c.343_345delAAG	c.(343-345)del	p.K115del		NM_194326.2	NP_919307.1	Q86WX3	AROS_HUMAN	ribosomal protein S19 binding protein 1	115						nucleolus|nucleoplasm				endometrium(1)|kidney(1)|large_intestine(1)	3	Melanoma(58;0.04)					TGCCCTCAGCCTTCTTCTTCTTG	0.606											OREG0026578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	50	---	---	---	---					
BRD1	23774	broad.mit.edu	37	22	50197901	50197902	+	Frame_Shift_Ins	INS	-	-	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chr22:50197901_50197902insG	ENST00000216267.8	-	2	1960_1961	c.1474_1475insC	c.(1474-1476)gctfs	p.A492fs	BRD1_ENST00000457780.2_Frame_Shift_Ins_p.A492fs|BRD1_ENST00000404760.1_Frame_Shift_Ins_p.A492fs|BRD1_ENST00000404034.1_Frame_Shift_Ins_p.A492fs|BRD1_ENST00000542442.1_Frame_Shift_Ins_p.A185fs|BRD1_ENST00000342989.5_Frame_Shift_Ins_p.A87fs	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	492					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CCGCCGCAGCAGGGGGGCCCCG	0.639													10	57	---	---	---	---					
TRO	7216	broad.mit.edu	37	X	54957424	54957425	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:54957424_54957425insT	ENST00000173898.7	+	12	4379_4380	c.4267_4268insT	c.(4267-4269)tggfs	p.W1423fs	TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Frame_Shift_Ins_p.W954fs|TRO_ENST00000375022.4_Intron|TRO_ENST00000375041.2_Frame_Shift_Ins_p.W1026fs|TRO_ENST00000399736.1_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1423	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AGCCGCCAGTCTTGGTGCCTGT	0.574													11	22	---	---	---	---					
FOXO4	4303	broad.mit.edu	37	X	70321276	70321277	+	Frame_Shift_Ins	INS	-	-	G			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:70321276_70321277insG	ENST00000374259.3	+	2	1528_1529	c.1196_1197insG	c.(1195-1197)cggfs	p.R399fs	FOXO4_ENST00000341558.3_Frame_Shift_Ins_p.R344fs	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	399					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					CTTCTGTTGCTGGGGGGGCTTC	0.634													9	23	---	---	---	---					
PCDH19	57526	broad.mit.edu	37	X	99662505	99662505	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:99662505delG	ENST00000373034.4	-	1	2766	c.1091delC	c.(1090-1092)cgfs	p.P364fs	PCDH19_ENST00000255531.7_Frame_Shift_Del_p.P364fs|PCDH19_ENST00000420881.2_Frame_Shift_Del_p.P364fs	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	364	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P364fs*4(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CACGTAGCCCGGGGGGGCGCT	0.607													20	50	---	---	---	---					
CENPI	2491	broad.mit.edu	37	X	100382549	100382549	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:100382549delA	ENST00000372927.1	+	10	1246	c.969delA	c.(967-969)ggfs	p.G323fs	CENPI_ENST00000218507.5_Frame_Shift_Del_p.G323fs|CENPI_ENST00000423383.1_Frame_Shift_Del_p.G323fs|CENPI_ENST00000372926.1_Frame_Shift_Del_p.G323fs	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	323					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AAGAATGTGGAAAAAAAGAGA	0.353													11	61	---	---	---	---					
ARHGEF6	9459	broad.mit.edu	37	X	135861614	135861616	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-86-A4JF-01A-11D-A24P-08	TCGA-86-A4JF-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b2dfe24-4585-47f8-8f97-04f734e3e38b	637afdad-87c7-4832-9235-506369a19d1b	g.chrX:135861614_135861616delTGT	ENST00000250617.6	-	2	1411_1413	c.206_208delACA	c.(205-210)atc>a	p.NI69del		NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	69	CH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					AAGTCATTGATGTTGTTGATGCA	0.458													22	45	---	---	---	---					
