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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													4	56					0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56161654	56161654	+	Splice_Site	SNP	A	A	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr5:56161654A>T	ENST00000399503.3	+	6	1152		c.e6-1			NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase						cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TTCCAATGTTAGGTTGAGAGT	0.348000													13	43					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103114489	103114489	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr11:103114489A>G	ENST00000375735.2	+	64	10031	c.9887A>G	c.(9886-9888)aAa>aGa	p.K3296R	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.K3303R|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3296	AAA 5 (By similarity).				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)		ACACATTTGAAAGACTCACGT	0.318000													5	12					0	0	1	0	0
PPP2R1B	5519	broad.mit.edu	37	11	111614250	111614250	+	Silent	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr11:111614250G>A	ENST00000527614.1	-	12	1469	c.1404C>T	c.(1402-1404)taC>taT	p.Y468Y	PPP2R1B_ENST00000426998.2_Silent_p.Y404Y|PPP2R1B_ENST00000341980.6_Silent_p.Y423Y|PPP2R1B_ENST00000393055.2_Silent_p.Y341Y|PPP2R1B_ENST00000427203.2_Silent_p.Y307Y|PPP2R1B_ENST00000311129.5_Silent_p.Y468Y	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	468							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		CTCGGATGGCGTATACTGCAG	0.388000													4	135					0	0	1	0	0
ZNF277	11179	broad.mit.edu	37	7	111927047	111927047	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr7:111927047G>A	ENST00000421043.1	+	2	231	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	ZNF277_ENST00000450657.1_Missense_Mutation_p.E71K|ZNF277_ENST00000361822.3_Missense_Mutation_p.E71K			Q9NRM2	ZN277_HUMAN	zinc finger protein 277	71						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						TCCTGTGGCTGAACAAGACAA	0.433000													19	69					0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94741742	94741742	+	Silent	SNP	C	C	T	rs114442446	by1000genomes	TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr14:94741742C>T	ENST00000304338.3	+	24	2635	c.2481C>T	c.(2479-2481)agC>agT	p.S827S		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	827						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						ATGCCAGTAGCGTTCCATCTT	0.418000													33	93					0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72285991	72285991	+	RNA	SNP	C	C	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr7:72285991C>A	ENST00000438904.2	-	0	303				TYW1B_ENST00000435769.2_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GGATCATATTCTTTTAGATTA	0.343000													4	36					0.150653	0.151472	1	1	0
SPEN	23013	broad.mit.edu	37	1	16260337	16260337	+	Silent	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr1:16260337G>A	ENST00000375759.3	+	11	7806	c.7602G>A	c.(7600-7602)ctG>ctA	p.L2534L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2534	RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.L2534L(1)		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)		CCAGCACCCTGAGGAAGATTC	0.567000													36	120					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15928375	15928375	+	Silent	SNP	C	C	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr5:15928375C>T	ENST00000504595.1	+	3	985	c.504C>T	c.(502-504)cgC>cgT	p.R168R	FBXL7_ENST00000510662.1_Silent_p.R121R|FBXL7_ENST00000329673.7_Silent_p.R156R	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	168					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						ACGTGGACCGCGCCCTCAAGG	0.667000													5	10					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26581413	26581413	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr10:26581413C>T	ENST00000376261.3	+	14	1909	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V	GAD2_ENST00000259271.3_Missense_Mutation_p.A469V	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	469					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.A469V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	GGGTTTGAAGCGCATGTTGAT	0.448000													30	65					0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58438922	58438922	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr19:58438922C>T	ENST00000396147.1	-	4	918	c.627G>A	c.(625-627)atG>atA	p.M209I	ZNF418_ENST00000599852.1_Missense_Mutation_p.M124I|ZNF418_ENST00000595830.1_Missense_Mutation_p.M209I|ZNF418_ENST00000425570.3_Missense_Mutation_p.M230I|ZNF418_ENST00000600989.1_Intron	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TAGAATGTTTCATGCATTCTC	0.458000													11	61					0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38950240	38950240	+	Missense_Mutation	SNP	G	G	A	rs150448547		TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr17:38950240G>A	ENST00000306658.7	-	6	1102	c.1037C>T	c.(1036-1038)gCg>gTg	p.A346V		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	346	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CTGGATCTGCGCCAGCTGCGT	0.577000													54	68					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101054639	101054639	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr6:101054639C>T	ENST00000369162.2	-	32	5365	c.5021G>A	c.(5020-5022)cGt>cAt	p.R1674H		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1674	Helicase C-terminal 2.				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)		ATCCACATAACGTCTTGTTTT	0.313000													56	25					0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101601156	101601156	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr8:101601156C>G	ENST00000311812.2	-	11	1180	c.1030G>C	c.(1030-1032)Gag>Cag	p.E344Q	SNX31_ENST00000519521.1_5'UTR|SNX31_ENST00000428383.2_Missense_Mutation_p.E245Q	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	344					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			AATCTGAGCTCTAAGTTCTGG	0.413000													10	173					0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52193386	52193386	+	Silent	SNP	G	G	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr20:52193386G>C	ENST00000371471.2	-	4	2342	c.1917C>G	c.(1915-1917)ctC>ctG	p.L639L	ZNF217_ENST00000302342.3_Silent_p.L639L			O75362	ZN217_HUMAN	zinc finger protein 217	639					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.L639L(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TTCTACAGATGAGGTTATTTG	0.478000													12	77					0	0	1	0	0
IKBKE	9641	broad.mit.edu	37	1	206652356	206652356	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr1:206652356G>A	ENST00000367120.3	+	10	1436	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	IKBKE_ENST00000537984.1_Missense_Mutation_p.E270K	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	355					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)					GTACCTCTTTGAGGGTCACCT	0.622000													10	66					0	0	1	0	0
VWC2L	402117	broad.mit.edu	37	2	215278847	215278847	+	Translation_Start_Site	SNP	C	C	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr2:215278847C>A	ENST00000312504.5	+	0	732				AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000427124.1_De_novo_Start_OutOfFrame	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like							extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						GCCTACCCCTCTTGTATTCCC	0.353000													14	26					1.5842e-08	1.74451e-08	1	1	0
MKI67	4288	broad.mit.edu	37	10	129906963	129906963	+	Silent	SNP	C	C	T	rs138983955		TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr10:129906963C>T	ENST00000368654.3	-	13	3516	c.3141G>A	c.(3139-3141)acG>acA	p.T1047T	MKI67_ENST00000368653.3_Silent_p.T687T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1047	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCTCCCCTGACGTCCGTGTGA	0.537000													50	184					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48636380	48636380	+	Silent	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr4:48636380G>A	ENST00000358350.4	-	4	652	c.48C>T	c.(46-48)gtC>gtT	p.V16V	FRYL_ENST00000507711.1_Silent_p.V16V|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Silent_p.V16V|FRYL_ENST00000537810.1_Silent_p.V16V	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GGCTCTTGATGACATATTCAC	0.383000													13	65					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130187839	130187839	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr3:130187839A>C	ENST00000265379.6	+	38	7485	c.6991A>C	c.(6991-6993)Acc>Ccc	p.T2331P	COL6A5_ENST00000432398.2_Missense_Mutation_p.T2331P			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2331	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						ACTGACCTCCACCTTAGGAGA	0.448000													4	13					0	0	1	0	0
TBPL1	9519	broad.mit.edu	37	6	134303956	134303956	+	Splice_Site	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr6:134303956G>A	ENST00000237264.4	+	4	495	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	TBPL1_ENST00000477527.1_3'UTR|TBPL1_ENST00000367871.1_Splice_Site_p.E74K	NM_001253676.1|NM_004865.3	NP_001240605.1|NP_004856.1	P62380	TBPL1_HUMAN	TBP-like 1	74					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	cytoplasm	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	6	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848)		AAACCGTAGTGAAGAAGAAGC	0.333000													5	44					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643203	1643203	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr11:1643203C>T	ENST00000399682.1	-	1	165	c.121G>A	c.(121-123)Ggc>Agc	p.G41S		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	41						keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		cccccacagccggagccacag	0.692000													13	21					0	0	1	0	0
BAIAP2L1	55971	broad.mit.edu	37	7	97933617	97933617	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr7:97933617T>C	ENST00000005260.8	-	12	1528	c.1313A>G	c.(1312-1314)gAc>gGc	p.D438G		NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	438					filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TTCCAAGTAGTCGGGTGGGGG	0.572000													15	8					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35946534	35946534	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr17:35946534C>T	ENST00000339208.6	-	4	504	c.364G>A	c.(364-366)Gag>Aag	p.E122K	SYNRG_ENST00000346661.4_Missense_Mutation_p.E122K|SYNRG_ENST00000345615.4_Missense_Mutation_p.E122K|SYNRG_ENST00000591288.1_Missense_Mutation_p.E122K|SYNRG_ENST00000585472.1_Missense_Mutation_p.E121K|SYNRG_ENST00000502449.2_Missense_Mutation_p.E122K|SYNRG_ENST00000394378.2_Missense_Mutation_p.E122K	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	122					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TACTGCTGCTCTTCGGCAAAC	0.458000													11	48					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165586618	165586618	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr2:165586618T>C	ENST00000375458.2	-	3	459	c.238A>G	c.(238-240)Atg>Gtg	p.M80V	COBLL1_ENST00000392717.2_Missense_Mutation_p.M118V|COBLL1_ENST00000409184.3_Missense_Mutation_p.M118V|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000194871.6_Missense_Mutation_p.M133V|COBLL1_ENST00000342193.4_Missense_Mutation_p.M80V	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	118										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AAGTCCATCATAGGTTTACTG	0.323000													16	16					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40411866	40411866	+	Silent	SNP	C	C	T	rs144633711		TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr19:40411866C>T	ENST00000221347.6	-	7	3769	c.3762G>A	c.(3760-3762)gcG>gcA	p.A1254A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1254	VWFD 3.					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)			GGTCTCCTGACGCCTGGCAGG	0.677000													4	23					0	0	1	0	0
RNF180	285671	broad.mit.edu	37	5	63509792	63509792	+	Silent	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr5:63509792G>A	ENST00000389100.4	+	4	711	c.639G>A	c.(637-639)caG>caA	p.Q213Q	RNF180_ENST00000296615.6_Silent_p.Q213Q|RNF180_ENST00000381081.2_Intron	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	213						integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		TTGTTCCCCAGCTTGTGACTG	0.413000													17	16					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47315056	47315056	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr14:47315056G>A	ENST00000426342.1	-	16	2754	c.2008C>T	c.(2008-2010)Cga>Tga	p.R670*	MDGA2_ENST00000399222.3_Nonsense_Mutation_p.R101*|MDGA2_ENST00000357362.3_Nonsense_Mutation_p.R670*|MDGA2_ENST00000439988.3_Nonsense_Mutation_p.R968*|MDGA2_ENST00000399232.2_Nonsense_Mutation_p.R899*	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	899					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCAGGACCTCGGATACCTTCA	0.363000													15	35					0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55857555	55857555	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr16:55857555G>A	ENST00000422046.2	-	4	724	c.443C>T	c.(442-444)gCg>gTg	p.A148V	CES1_ENST00000360526.3_Missense_Mutation_p.A149V|CES1_ENST00000361503.4_Missense_Mutation_p.A148V|CES1_ENST00000566555.1_5'UTR			P23141	EST1_HUMAN	carboxylesterase 1	148					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GGTTGATGCCGCACCCACCAT	0.562000													3	29					0	0	1	0	0
U2AF1	7307	broad.mit.edu	37	21	44515577	44515577	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr21:44515577C>G	ENST00000459639.1	-	4	1124	c.100G>C	c.(100-102)Gac>Cac	p.D34H	U2AF1_ENST00000380276.2_Missense_Mutation_p.D107H|U2AF1_ENST00000398137.1_Missense_Mutation_p.D34H|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000291552.4_Missense_Mutation_p.D107H			Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	107					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						ACCAGGTGGTCTCCCAGGTTG	0.572000			Mis		"""CLL, MDS"""								18	41					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299271	125299271	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chrX:125299271G>T	ENST00000538699.1	-	2	717	c.637C>A	c.(637-639)Cgc>Agc	p.R213S	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R213S	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	213								p.R213C(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GTGCCGTCGCGGGAGCCGCTC	0.647000													16	2					5.3912e-06	5.8669e-06	1	1	0
CCDC24	149473	broad.mit.edu	37	1	44457958	44457958	+	Silent	SNP	C	C	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr1:44457958C>T	ENST00000372318.3	+	3	372	c.201C>T	c.(199-201)ccC>ccT	p.P67P	SLC6A9_ENST00000372307.3_Intron|CCDC24_ENST00000479055.1_Intron|SLC6A9_ENST00000372306.3_Intron	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	67										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TCTCTGACCCCTCTTCTCTTC	0.622000													17	55					0	0	1	0	0
USP10	9100	broad.mit.edu	37	16	84792992	84792992	+	Silent	SNP	C	C	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr16:84792992C>T	ENST00000219473.7	+	6	1421	c.1308C>T	c.(1306-1308)tgC>tgT	p.C436C	USP10_ENST00000570191.1_Silent_p.C440C	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	436					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						TGGTTGCTTGCCCGCCGATGT	0.468000													3	32					0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111368615	111368615	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr3:111368615G>C	ENST00000352690.4	+	14	1912	c.1672G>C	c.(1672-1674)Gaa>Caa	p.E558Q	CD96_ENST00000283285.5_Missense_Mutation_p.E574Q	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	574	Pro-rich.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AGAGCCCAACGAAAGTGATCT	0.463000									Opitz Trigonocephaly syndrome				11	39					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30671644	30671644	+	Silent	SNP	C	C	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr6:30671644C>T	ENST00000376406.3	-	10	5963	c.5316G>A	c.(5314-5316)gaG>gaA	p.E1772E	MDC1_ENST00000376405.2_Silent_p.E1508E|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1772	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GAGAGGCAGGCTCAGGAATGG	0.542000								Other conserved DNA damage response genes					14	24					0	0	1	0	0
KDELC2	143888	broad.mit.edu	37	11	108356908	108356908	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr11:108356908C>G	ENST00000434945.2	-	2	794	c.492G>C	c.(490-492)gaG>gaC	p.E164D	KDELC2_ENST00000532730.1_5'UTR|KDELC2_ENST00000375648.1_Missense_Mutation_p.E164D|KDELC2_ENST00000323468.5_Missense_Mutation_p.E220D			Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	220						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|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;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		ATAACAAAATCTCATCAGAGA	0.318000													35	17					0	0	1	0	0
WIPF2	147179	broad.mit.edu	37	17	38412749	38412749	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr17:38412749C>T	ENST00000323571.4	+	2	278	c.38C>T	c.(37-39)cCt>cTt	p.P13L	WIPF2_ENST00000583130.1_Missense_Mutation_p.P13L|WIPF2_ENST00000585043.1_Missense_Mutation_p.P13L|WIPF2_ENST00000494757.1_Intron|WIPF2_ENST00000394103.3_Missense_Mutation_p.P13L|WIPF2_ENST00000536600.1_Missense_Mutation_p.P13L	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	13	Poly-Pro.					cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CCACCTGGTCCTCCTCCACCT	0.478000										HNSCC(43;0.11)			17	28					0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	192820988	192820988	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr2:192820988A>T	ENST00000392314.1	-	8	1253	c.862T>A	c.(862-864)Tct>Act	p.S288T	AC098617.1_ENST00000428980.2_RNA|AC098617.1_ENST00000424116.2_RNA|TMEFF2_ENST00000272771.5_Missense_Mutation_p.S288T			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	288	EGF-like.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TACCTGCAAGATGGCTCCTGC	0.363000													6	37					0	0	1	0	0
MYL5	4636	broad.mit.edu	37	4	675782	675782	+	Nonstop_Mutation	SNP	G	G	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr4:675782G>C	ENST00000506838.1	+	8	2922	c.398G>C	c.(397-399)tGa>tCa	p.*133S	MFSD7_ENST00000322224.4_Missense_Mutation_p.H549D|MFSD7_ENST00000347950.5_Missense_Mutation_p.H431D|MYL5_ENST00000400159.2_Nonstop_Mutation_p.*174S|MFSD7_ENST00000515118.1_Missense_Mutation_p.H453D|MFSD7_ENST00000404286.2_Missense_Mutation_p.H550D|MFSD7_ENST00000503156.1_3'UTR|MYL5_ENST00000505477.1_Nonstop_Mutation_p.*133S|MYL5_ENST00000511290.1_Nonstop_Mutation_p.*133S			Q02045	MYL5_HUMAN	myosin, light chain 5, regulatory	0	EF-hand 2.				regulation of muscle contraction	muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(1)|kidney(1)|lung(1)	3						AAGGAGGAGTGAGACCCAGCC	0.657000													4	6					0	0	1	0	0
PRDX4	10549	broad.mit.edu	37	X	23693123	23693123	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chrX:23693123A>G	ENST00000379341.4	+	3	501	c.376A>G	c.(376-378)Act>Gct	p.T126A	PRDX4_ENST00000495599.1_3'UTR|PRDX4_ENST00000379331.3_Missense_Mutation_p.T126A	NM_006406.1	NP_006397.1	Q13162	PRDX4_HUMAN	peroxiredoxin 4	126	Thioredoxin.				cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity			lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						TGTGTGTCCAACTGAAATTAT	0.333000													34	12					0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56144934	56144934	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr2:56144934G>C	ENST00000394555.2	-	4	818	c.383C>G	c.(382-384)cCt>cGt	p.P128R	EFEMP1_ENST00000355426.3_Missense_Mutation_p.P128R|EFEMP1_ENST00000424836.2_Missense_Mutation_p.P70R|EFEMP1_ENST00000394554.1_Missense_Mutation_p.P128R	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	128					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTGCATTTCAGGGCCTGCGAC	0.607000													12	44					0	0	1	0	0
LDHC	3948	broad.mit.edu	37	11	18472663	18472663	+	Missense_Mutation	SNP	C	C	G	rs146040369	byFrequency	TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr11:18472663C>G	ENST00000541669.1	+	8	1099	c.988C>G	c.(988-990)Cta>Gta	p.L330V	LDHC_ENST00000535809.1_3'UTR|LDHC_ENST00000537486.1_3'UTR|LDHC_ENST00000546146.1_3'UTR|LDHC_ENST00000544105.1_3'UTR|LDHC_ENST00000536880.1_Missense_Mutation_p.L316V|LDHC_ENST00000280704.4_Missense_Mutation_p.L330V			P07864	LDHC_HUMAN	lactate dehydrogenase C	330					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	TCAAAAGGATCTAATATTTTA	0.338000													5	29					0	0	1	0	0
EEPD1	80820	broad.mit.edu	37	7	36194374	36194374	+	Silent	SNP	C	C	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr7:36194374C>T	ENST00000242108.4	+	2	1159	c.441C>T	c.(439-441)ctC>ctT	p.L147L	EEPD1_ENST00000534978.1_Silent_p.L147L	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	147					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CGGCCCAGCTCATGAGCGTGC	0.642000													9	17					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107022191	107022191	+	Silent	SNP	C	C	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr10:107022191C>T	ENST00000369701.3	+	26	3773	c.3546C>T	c.(3544-3546)ctC>ctT	p.L1182L		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1182						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AAATCACACTCAGTGACTTTA	0.512000													4	21					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42058560	42058560	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr15:42058560G>C	ENST00000219905.7	+	24	8461	c.8280G>C	c.(8278-8280)gaG>gaC	p.E2760D	MGA_ENST00000545763.1_Missense_Mutation_p.E2551D|MGA_ENST00000389936.4_Missense_Mutation_p.E2721D|MGA_ENST00000570161.1_Missense_Mutation_p.E2760D|MGA_ENST00000566586.1_Missense_Mutation_p.E2551D	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2721						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AATGGAAAGAGAGTGAATCAA	0.368000													4	18					0	0	1	0	0
ARMC9	80210	broad.mit.edu	37	2	232079645	232079645	+	Silent	SNP	C	C	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr2:232079645C>A	ENST00000349938.4	+	4	473	c.279C>A	c.(277-279)gcC>gcA	p.A93A	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	93							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		ACTCCTTTGCCCAGAAGCTGG	0.507000													4	21					0.000602214	0.000629433	1	1	0
ARF4	378	broad.mit.edu	37	3	57561312	57561312	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr3:57561312G>A	ENST00000303436.6	-	5	686	c.419C>T	c.(418-420)aCa>aTa	p.T140I	ARF4_ENST00000489843.1_Missense_Mutation_p.T31I|ARF4_ENST00000496292.1_Missense_Mutation_p.T113I	NM_001660.3	NP_001651.1	P18085	ARF4_HUMAN	ADP-ribosylation factor 4	140					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus	GTP binding|GTPase activity			large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)		TAGTTTATCTGTCATTTCACT	0.373000													28	18					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27303425	27303425	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr8:27303425C>A	ENST00000397501.1	+	29	3137	c.2329C>A	c.(2329-2331)Cac>Aac	p.H777N	PTK2B_ENST00000420218.2_Intron|PTK2B_ENST00000544172.1_Missense_Mutation_p.H777N|PTK2B_ENST00000338238.4_Intron|PTK2B_ENST00000517339.1_Intron|PTK2B_ENST00000346049.5_Missense_Mutation_p.H777N|PTK2B_ENST00000397497.4_Intron	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	777					apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CTTCAAACGCCACAGCATGCG	0.617000													14	12					0.105934	0.107092	1	1	0
CACNA1B	774	broad.mit.edu	37	9	141016009	141016009	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr9:141016009C>A	ENST00000277549.5	+	47	6729	c.4160C>A	c.(4159-4161)aCg>aAg	p.T1387K	CACNA1B_ENST00000371363.1_Missense_Mutation_p.T2191K|CACNA1B_ENST00000371355.4_Missense_Mutation_p.T2194K|CACNA1B_ENST00000371357.1_Missense_Mutation_p.T2192K|CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000371372.1_Missense_Mutation_p.T2193K			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2193					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTCCCCCAGACGCCCCTGACT	0.657000													5	6					0.000602214	0.000629433	1	1	0
MIS12	79003	broad.mit.edu	37	17	5392429	5392429	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr17:5392429G>C	ENST00000381165.3	+	3	800	c.247G>C	c.(247-249)Gag>Cag	p.E83Q	MIS12_ENST00000573759.1_Missense_Mutation_p.E83Q	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1	Q9H081	MIS12_HUMAN	MIS12 kinetochore complex component	83					cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						TAGCAAAATGGAGCAACTGTT	0.393000													14	48					0	0	1	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													4	84					0	0	1	0	0
VWA9	81556	broad.mit.edu	37	15	65883984	65883984	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr15:65883984C>A	ENST00000395644.4	-	9	1407	c.1072G>T	c.(1072-1074)Gaa>Taa	p.E358*	VWA9_ENST00000567744.1_Nonsense_Mutation_p.E394*|VWA9_ENST00000431261.2_Nonsense_Mutation_p.E279*|VWA9_ENST00000420799.2_Nonsense_Mutation_p.E301*|VWA9_ENST00000569491.1_Nonsense_Mutation_p.E308*|VWA9_ENST00000442903.3_Nonsense_Mutation_p.E322*|VWA9_ENST00000313182.2_Nonsense_Mutation_p.E358*					von Willebrand factor A domain containing 9																		GGGAGAGGTTCTGGGCCAGGC	0.448000													7	35					1.33987e-11	1.5301e-11	1	1	0
ZMIZ2	83637	broad.mit.edu	37	7	44800100	44800100	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr7:44800100G>A	ENST00000309315.4	+	9	1271	c.1148G>A	c.(1147-1149)aGc>aAc	p.S383N	ZMIZ2_ENST00000413916.1_Missense_Mutation_p.S325N|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.S351N|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.S383N|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.S357N	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	383	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCAAGCAGCAGCGTCCCTTAC	0.572000													38	40					0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	824887	824887	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr16:824887G>A	ENST00000293892.3	-	7	1684	c.1685C>T	c.(1684-1686)gCc>gTc	p.A562V	MSLNL_ENST00000442466.1_Missense_Mutation_p.A211V			Q96KJ4	MSLNL_HUMAN	mesothelin-like	211					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						AATGCGCTGGGCAGCGGTCAG	0.701000													3	14					0	0	1	0	0
ABI3	51225	broad.mit.edu	37	17	47299527	47299527	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr17:47299527C>A	ENST00000225941.1	+	7	1375	c.877C>A	c.(877-879)Ccc>Acc	p.P293T	ABI3_ENST00000419580.2_Missense_Mutation_p.P287T	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512	Q9P2A4	ABI3_HUMAN	ABI family, member 3	293	Pro-rich.				cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			GCTGCCTCCACCCCCACCAGG	0.602000										HNSCC(55;0.14)			9	39					0.0477658	0.0485531	1	1	0
OR6N1	128372	broad.mit.edu	37	1	158735807	158735807	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr1:158735807G>C	ENST00000335094.2	-	1	685	c.666C>G	c.(664-666)atC>atG	p.I222M		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GCACTGTGCAGATGATCTGCA	0.493000													22	63					0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12059714	12059714	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr19:12059714C>A	ENST00000482090.1	+	3	1239	c.821C>A	c.(820-822)tCc>tAc	p.S274Y	CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000254321.5_Missense_Mutation_p.S292Y|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						AGTTCTAGTTCCTATCATAGA	0.373000													18	21					6.94344e-10	7.83254e-10	1	1	0
MFSD9	84804	broad.mit.edu	37	2	103340298	103340298	+	Silent	SNP	C	C	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr2:103340298C>A	ENST00000258436.5	-	5	541	c.498G>T	c.(496-498)ccG>ccT	p.P166P		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	166					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CGATTACAAGCGGCCGTTCCT	0.493000													73	18					2.6465e-34	3.11849e-34	1	1	0
SMARCA2	6595	broad.mit.edu	37	9	2115849	2115849	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr9:2115849C>A	ENST00000382203.1	+	25	3693	c.3484C>A	c.(3484-3486)Cgc>Agc	p.R1162S	SMARCA2_ENST00000382194.1_Missense_Mutation_p.R1162S|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R1162S|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R1162S			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1162	Helicase C-terminal.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	p.R1158C(1)|p.R1162C(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCGAGCTCACCGCATCGGGCA	0.582000													4	10					1	1	1	1	0
KCNMA1	3778	broad.mit.edu	37	10	78704623	78704623	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr10:78704623G>A	ENST00000286627.5	-	22	3588	c.2636C>T	c.(2635-2637)tCg>tTg	p.S879L	KCNMA1_ENST00000286628.8_Missense_Mutation_p.S937L|KCNMA1_ENST00000404857.1_Missense_Mutation_p.S920L|KCNMA1_ENST00000354353.5_Missense_Mutation_p.S940L|RP11-443A13.5_ENST00000608791.1_RNA|RP11-443A13.5_ENST00000600782.1_RNA|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.S937L|KCNMA1_ENST00000372440.1_Missense_Mutation_p.S879L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.S941L|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.S879L|RP11-443A13.5_ENST00000426234.1_RNA	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	937					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GTCCTGCAGCGAAGTATCATC	0.458000													14	59					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91712796	91712796	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr7:91712796A>C	ENST00000359028.2	+	34	8734	c.8509A>C	c.(8509-8511)Act>Cct	p.T2837P	AKAP9_ENST00000356239.3_Missense_Mutation_p.T2825P|AKAP9_ENST00000358100.2_Missense_Mutation_p.T2837P			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2837					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)			CAGTCAGTTTACTGAAAAAAT	0.333000			T	BRAF	papillary thyroid								9	33					0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93043704	93043704	+	Splice_Site	SNP	G	G	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr14:93043704G>C	ENST00000216487.7	+	3	408		c.e3-1		RIN3_ENST00000418924.2_Splice_Site	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3						endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TTTGGTTTCAGATGTTCCTGG	0.522000													33	154					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871198	51871198	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr20:51871198G>T	ENST00000371497.5	+	2	2088	c.1201G>T	c.(1201-1203)Gtc>Ttc	p.V401F	TSHZ2_ENST00000329613.6_Missense_Mutation_p.V398F|TSHZ2_ENST00000603338.2_Missense_Mutation_p.V398F	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	401					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CCACATGATGGTCACAGGTCA	0.527000													15	61					2.32078e-09	2.60209e-09	1	1	0
GGT1	2678	broad.mit.edu	37	22	25024085	25024085	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr22:25024085G>A	ENST00000400382.1	+	14	2129	c.1374G>A	c.(1372-1374)atG>atA	p.M458I	GGT1_ENST00000400380.1_Missense_Mutation_p.M458I|GGT1_ENST00000400383.1_Missense_Mutation_p.M458I|GGT1_ENST00000248923.4_Missense_Mutation_p.M458I|GGT1_ENST00000401885.1_Missense_Mutation_p.M114I|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000404532.1_Missense_Mutation_p.M114I|GGT1_ENST00000404223.1_Missense_Mutation_p.M114I|GGT1_ENST00000403838.1_Missense_Mutation_p.M114I|GGT1_ENST00000406383.2_Missense_Mutation_p.M458I|GGT1_ENST00000404920.1_Missense_Mutation_p.M114I			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	458					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CGACGATCATGGTGGGCCAGG	0.657000													5	51					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71413729	71413729	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr14:71413729C>A	ENST00000304743.2	+	2	697	c.251C>A	c.(250-252)gCa>gAa	p.A84E	PCNX_ENST00000238570.5_Missense_Mutation_p.A84E|PCNX_ENST00000439984.3_Missense_Mutation_p.A84E	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	84						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTACACAGAGCACTTGATGCT	0.438000													4	22					0.00909568	0.00940056	1	1	0
SPEN	23013	broad.mit.edu	37	1	16259375	16259375	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr1:16259375G>C	ENST00000375759.3	+	11	6844	c.6640G>C	c.(6640-6642)Gag>Cag	p.E2214Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2214	Interaction with MSX2 (By similarity).|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)		AAGTGAAACAGAGCTGGCTGC	0.572000													7	26					0	0	1	0	0
ANP32A	8125	broad.mit.edu	37	15	69080184	69080184	+	Silent	SNP	T	T	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr15:69080184T>C	ENST00000465139.2	-	2	272	c.129A>G	c.(127-129)gaA>gaG	p.E43E	ANP32A_ENST00000483551.2_5'UTR|ANP32A_ENST00000560303.1_Silent_p.E43E	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	43					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						AGAATTCCAGTTCTTCAAATT	0.443000													21	104					0	0	1	0	0
RAPSN	5913	broad.mit.edu	37	11	47464327	47464327	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr11:47464327C>G	ENST00000298854.2	-	3	784	c.571G>C	c.(571-573)Gag>Cag	p.E191Q	RAPSN_ENST00000352508.3_Missense_Mutation_p.E191Q|RAPSN_ENST00000524487.1_Intron|RAPSN_ENST00000529341.1_Missense_Mutation_p.E191Q	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	191					synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						TTGACAAGCTCTGCCGCCTTG	0.607000													9	55					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589699	140589699	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr5:140589699G>C	ENST00000239450.2	+	1	1409	c.1220G>C	c.(1219-1221)aGa>aCa	p.R407T	PCDHB12_ENST00000541609.1_Missense_Mutation_p.R70T	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		407	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAACAGAGAGACCGCTGGAC	0.502000													3	48					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100595363	100595363	+	Silent	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr3:100595363G>A	ENST00000471714.1	-	7	868	c.759C>T	c.(757-759)atC>atT	p.I253I	ABI3BP_ENST00000284322.5_Silent_p.I253I|ABI3BP_ENST00000495063.1_Silent_p.I253I			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	253						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						TACCTTGCTTGATGATTGTTA	0.343000													16	7					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40843507	40843507	+	Silent	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr17:40843507G>A	ENST00000264638.4	+	15	2539	c.2322G>A	c.(2320-2322)agG>agA	p.R774R	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	774	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)		TCTTCCTGAGGCCTCTGCGCT	0.562000													16	25					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31604676	31604676	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr6:31604676T>G	ENST00000376033.2	+	28	6335	c.6101T>G	c.(6100-6102)cTg>cGg	p.L2034R	PRRC2A_ENST00000376007.4_Missense_Mutation_p.L2034R	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	2034	3 X 50 AA type C repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						ACTCGGGTGCTGCCTTCACCT	0.657000													8	54					0	0	1	0	0
GYS1	2997	broad.mit.edu	37	19	49473069	49473069	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr19:49473069G>A	ENST00000323798.3	-	15	2049	c.1853C>T	c.(1852-1854)cCa>cTa	p.P618L	GYS1_ENST00000263276.6_Missense_Mutation_p.P554L|GYS1_ENST00000541188.1_Missense_Mutation_p.P538L|GYS1_ENST00000544287.1_Missense_Mutation_p.P251L	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	618					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		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;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		GAAGTGCTCTGGAAAGGCCTT	0.627000													14	19					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42058273	42058273	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr15:42058273G>T	ENST00000219905.7	+	24	8174	c.7993G>T	c.(7993-7995)Gat>Tat	p.D2665Y	MGA_ENST00000545763.1_Missense_Mutation_p.D2456Y|MGA_ENST00000389936.4_Missense_Mutation_p.D2626Y|MGA_ENST00000570161.1_Missense_Mutation_p.D2665Y|MGA_ENST00000566586.1_Missense_Mutation_p.D2456Y	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2626						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AGGTTTGGTAGATATGGGTGG	0.373000													8	33					0.00307968	0.00320079	1	1	0
TANC2	26115	broad.mit.edu	37	17	61432490	61432490	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr17:61432490C>T	ENST00000424789.2	+	12	2103	c.2099C>T	c.(2098-2100)tCc>tTc	p.S700F	TANC2_ENST00000389520.4_Missense_Mutation_p.S700F	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	700							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						ACCCAGTCTTCCTTTGACCGG	0.483000													13	40					0	0	1	0	0
NASP	4678	broad.mit.edu	37	1	46073347	46073347	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr1:46073347G>C	ENST00000350030.3	+	6	851	c.764G>C	c.(763-765)aGa>aCa	p.R255T	NASP_ENST00000372052.4_Intron|NASP_ENST00000351223.3_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.R191T|NASP_ENST00000402363.3_Missense_Mutation_p.R257T	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	255	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GAAGAGTGCAGAGAAAAAGGA	0.468000													8	22					0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85466511	85466511	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr6:85466511G>T	ENST00000369663.5	-	4	1013	c.676C>A	c.(676-678)Cca>Aca	p.P226T	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_Missense_Mutation_p.P68T	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	226					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGCGAGTCTGGATGAATGTAC	0.522000													7	37					8.12818e-05	8.69199e-05	1	1	0
SHMT1	6470	broad.mit.edu	37	17	18238990	18238990	+	Splice_Site	SNP	C	C	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr17:18238990C>T	ENST00000316694.3	-	8	949		c.e8-1		SHMT1_ENST00000539052.1_Splice_Site|SHMT1_ENST00000352886.6_Intron|SHMT1_ENST00000354098.3_Intron	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)						carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CTTTTCACTCCTGGAGGAAGA	0.502000													19	69					0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116728585	116728585	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr11:116728585A>T	ENST00000375300.1	-	20	3457	c.3452T>A	c.(3451-3453)aTa>aAa	p.I1151K	SIK3_ENST00000292055.4_Missense_Mutation_p.I1093K|SIK3_ENST00000375288.1_Missense_Mutation_p.I428K|SIK3_ENST00000542607.1_Missense_Mutation_p.I1033K|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000446921.2_Missense_Mutation_p.I1091K|SIK3_ENST00000434315.2_Missense_Mutation_p.I932K			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1093						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ATAGGGATGTATCCCCAATTC	0.527000													31	23					0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38041445	38041445	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr22:38041445G>C	ENST00000599616.1	+	8	660	c.660G>C	c.(658-660)gaG>gaC	p.E220D	SH3BP1_ENST00000357436.4_Missense_Mutation_p.E284D|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000336738.5_Missense_Mutation_p.E284D|SH3BP1_ENST00000442465.2_Missense_Mutation_p.E284D			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	284	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					ACCTGCAAGAGCTGGGCCGGG	0.632000													15	36					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104120022	104120022	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr10:104120022G>A	ENST00000369983.3	+	12	1519	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H	GBF1_ENST00000476019.1_Intron	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	420					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCACACGACCGCCATAACTCA	0.582000													4	156					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49420661	49420661	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr12:49420661G>A	ENST00000301067.7	-	48	15087	c.15088C>T	c.(15088-15090)Cgt>Tgt	p.R5030C		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CAGCAGCGACGCATGTCTCGC	0.622000													7	19					0	0	1	0	0
PIGA	5277	broad.mit.edu	37	X	15344106	15344106	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chrX:15344106T>C	ENST00000333590.4	-	3	862	c.778A>G	c.(778-780)Ata>Gta	p.I260V	PIGA_ENST00000542278.1_Missense_Mutation_p.I26V|PIGA_ENST00000428964.1_5'UTR|PIGA_ENST00000482148.1_Intron	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	260					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					CCTCCAATTATGAAATTTAAA	0.353000													56	7					0	0	1	0	0
PDE8A	5151	broad.mit.edu	37	15	85669488	85669488	+	Silent	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr15:85669488G>A	ENST00000310298.4	+	21	2388	c.2136G>A	c.(2134-2136)gaG>gaA	p.E712E	PDE8A_ENST00000557957.1_Silent_p.E640E|PDE8A_ENST00000394553.1_Silent_p.E712E|PDE8A_ENST00000339708.5_Silent_p.E666E			O60658	PDE8A_HUMAN	phosphodiesterase 8A	712	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			GGACTCCAGAGAACCGGACCC	0.468000													14	47					0	0	1	0	0
TNFRSF1A	7132	broad.mit.edu	37	12	6439781	6439781	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr12:6439781G>C	ENST00000162749.2	-	7	1021	c.722C>G	c.(721-723)tCc>tGc	p.S241C	TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.S198C	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	241					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						GTAGAGCTTGGACTTCCACCG	0.552000													3	17					0	0	1	0	0
HSD17B12	51144	broad.mit.edu	37	11	43819947	43819947	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr11:43819947G>A	ENST00000278353.4	+	4	480	c.361G>A	c.(361-363)Ggc>Agc	p.G121S	HSD17B12_ENST00000529261.1_3'UTR	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	121					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity			endometrium(2)|large_intestine(4)|lung(4)	10						AATTAAAACAGGCTTGGCTGG	0.318000													32	31					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131414176	131414176	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr8:131414176G>A	ENST00000357668.1	-	1	41	c.14C>T	c.(13-15)gCc>gTc	p.A5V	ASAP1_ENST00000518721.1_Missense_Mutation_p.A5V			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	5					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GAGCCTGGAGGCTGAAGATCT	0.527000													11	46					0	0	1	0	0
ADARB1	104	broad.mit.edu	37	21	46624533	46624533	+	Silent	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr21:46624533G>A	ENST00000539173.1	+	10	2184	c.1749G>A	c.(1747-1749)tcG>tcA	p.S583S	ADARB1_ENST00000360697.3_Silent_p.S583S|ADARB1_ENST00000389863.4_Silent_p.S583S|ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000348831.4_Silent_p.S543S	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	583	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		TTTACTTCTCGAGCATCATCC	0.572000													19	29					0	0	1	0	0
FASTKD2	22868	broad.mit.edu	37	2	207652752	207652752	+	Silent	SNP	C	C	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr2:207652752C>T	ENST00000236980.6	+	9	2034	c.1686C>T	c.(1684-1686)ctC>ctT	p.L562L	FASTKD2_ENST00000402774.3_Silent_p.L562L|FASTKD2_ENST00000403094.3_Silent_p.L562L	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	562					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		CCTTGTCACTCCCACAGCTGC	0.473000													7	16					0	0	1	0	0
BIRC7	79444	broad.mit.edu	37	20	61870759	61870759	+	Silent	SNP	C	C	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr20:61870759C>A	ENST00000217169.3	+	6	913	c.699C>A	c.(697-699)ccC>ccA	p.P233P	BIRC7_ENST00000395306.1_Intron|BIRC7_ENST00000342412.6_Intron	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	233					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)					TTCTTGAGCCCCCAGGAGCCA	0.677000													9	26					1.12685e-05	1.21911e-05	1	1	0
PRR5	55615	broad.mit.edu	37	22	45122478	45122478	+	Missense_Mutation	SNP	A	A	T	rs143196442		TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr22:45122478A>T	ENST00000403581.1	+	6	964	c.355A>T	c.(355-357)Atg>Ttg	p.M119L	PRR5_ENST00000336985.6_Missense_Mutation_p.M96L|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.M96L|PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.M96L|PRR5_ENST00000006251.7_Missense_Mutation_p.M87L|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.M87L|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.M96L	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)		GACAAAAGGCATGGTGATCCT	0.632000													24	15					0	0	1	0	0
TFDP1	7027	broad.mit.edu	37	13	114290332	114290332	+	Missense_Mutation	SNP	C	C	T	rs148175670	byFrequency	TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr13:114290332C>T	ENST00000375370.5	+	9	940	c.728C>T	c.(727-729)gCg>gTg	p.A243V	TFDP1_ENST00000544902.1_Missense_Mutation_p.A148V|TFDP1_ENST00000538138.1_Missense_Mutation_p.A148V	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	243	DCB1.|Dimerization (Potential).|Enhances binding of RB protein to E2F.				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			AACCGGCATGCGGAGCAGCAG	0.577000										TSP Lung(29;0.18)			45	19					0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33296869	33296869	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr21:33296869G>T	ENST00000270112.2	+	2	711	c.351G>T	c.(349-351)atG>atT	p.M117I		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	117	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TCCAGCAGATGATCCGCCACC	0.488000													7	28					0.0293803	0.0300296	1	1	0
PUM2	23369	broad.mit.edu	37	2	20508257	20508257	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr2:20508257G>C	ENST00000361078.2	-	5	629	c.607C>G	c.(607-609)Ctt>Gtt	p.L203V	PUM2_ENST00000420234.1_5'UTR|PUM2_ENST00000319801.5_Missense_Mutation_p.L203V|PUM2_ENST00000338086.5_Missense_Mutation_p.L203V|PUM2_ENST00000536417.1_Missense_Mutation_p.L147V|PUM2_ENST00000403432.1_Missense_Mutation_p.L203V			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	203	Interaction with SNAPIN.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGATTAGGAAGAGGCCCCAGT	0.448000													15	75					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27688163	27688163	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr10:27688163C>T	ENST00000438700.3	-	4	1481	c.1364G>A	c.(1363-1365)gGg>gAg	p.G455E		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	455	SSD.				spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GTCATCGACCCCAACACCTGT	0.353000													8	17					0	0	1	0	0
C19orf12	83636	broad.mit.edu	37	19	30199321	30199321	+	Silent	SNP	C	C	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr19:30199321C>A	ENST00000392278.2	-	2	159	c.33G>T	c.(31-33)acG>acT	p.T11T	C19orf12_ENST00000392275.1_Intron|C19orf12_ENST00000592153.1_5'UTR|C19orf12_ENST00000392276.1_Intron|C19orf12_ENST00000323670.9_5'UTR	NM_001031726.3	NP_001026896.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	0						integral to membrane						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			TGATAGTCATCGTGGCGGGCC	0.517000													26	35					9.65021e-13	1.12282e-12	1	1	0
NCAM2	4685	broad.mit.edu	37	21	22696721	22696721	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr21:22696721T>C	ENST00000400546.1	+	6	887	c.638T>C	c.(637-639)aTg>aCg	p.M213T	NCAM2_ENST00000535285.1_Missense_Mutation_p.M238T|NCAM2_ENST00000284894.7_Missense_Mutation_p.M71T	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	213	Ig-like C2-type 3.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GCAATCTCAATGCCTCAGAAA	0.438000													20	28					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27057947	27057947	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr1:27057947C>G	ENST00000324856.7	+	3	2026	c.1655C>G	c.(1654-1656)tCa>tGa	p.S552*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.S169*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.S552*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	552					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCCCCTACTCACAGCCACAG	0.652000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								52	48					0	0	1	0	0
AQP8	343	broad.mit.edu	37	16	25228751	25228751	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr16:25228751C>T	ENST00000219660.5	+	2	370	c.245C>T	c.(244-246)aCg>aTg	p.T82M	AQP8_ENST00000566125.1_Missense_Mutation_p.T76M	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	82					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)		GTGATTGCCACGCTGGGGAAT	0.612000													59	35					0	0	1	0	0
GLT8D1	55830	broad.mit.edu	37	3	52731741	52731741	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr3:52731741G>C	ENST00000407584.3	-	5	1175	c.325C>G	c.(325-327)Ctc>Gtc	p.L109V	GLT8D1_ENST00000266014.5_Missense_Mutation_p.L109V|GLT8D1_ENST00000394783.3_Missense_Mutation_p.L109V|GLT8D1_ENST00000491606.1_Missense_Mutation_p.L109V|GLT8D1_ENST00000478968.2_Missense_Mutation_p.L109V	NM_001010983.1|NM_001278280.1	NP_001010983.1|NP_001265209.1	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	109						integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCTCACCGGAGATGGTCTGCT	0.458000													14	21					0	0	1	0	0
CHRNA10	57053	broad.mit.edu	37	11	3687600	3687600	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr11:3687600C>T	ENST00000250699.2	-	5	1161	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K	CHRNA10_ENST00000534359.1_3'UTR	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	364					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	GGAGATAACTCAGGTGGCCTG	0.697000													8	14					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22729059	22729059	+	RNA	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr4:22729059G>A	ENST00000508166.1	+	0	160				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.2_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGCCAATATTGCTTCGTCAAA	0.517000													6	55					0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64637574	64637574	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr17:64637574G>A	ENST00000413366.3	+	4	416	c.390G>A	c.(388-390)atG>atA	p.M130I		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	130					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	ATCAAGGGATGAAATGTGACA	0.473000													16	57					0	0	1	0	0
SHARPIN	81858	broad.mit.edu	37	8	145153856	145153856	+	Silent	SNP	T	T	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr8:145153856T>C	ENST00000398712.2	-	8	1525	c.1089A>G	c.(1087-1089)ccA>ccG	p.P363P		NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	363					negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGGCGGTCTGGGGCATTGA	0.607000													6	8					0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22033743	22033743	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr8:22033743G>A	ENST00000306385.5	+	3	1020	c.350G>A	c.(349-351)cGt>cAt	p.R117H	BMP1_ENST00000523849.1_3'UTR|BMP1_ENST00000354870.5_Missense_Mutation_p.R117H|BMP1_ENST00000397814.3_Missense_Mutation_p.R117H|BMP1_ENST00000306349.8_Missense_Mutation_p.R117H|BMP1_ENST00000397816.3_Missense_Mutation_p.R117H	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	117					cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGTAGATCCCGTAGCCGGCGG	0.617000													6	18					0	0	1	0	0
POMK	84197	broad.mit.edu	37	8	42977774	42977774	+	Silent	SNP	C	C	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr8:42977774C>T	ENST00000331373.5	+	5	1062	c.807C>T	c.(805-807)caC>caT	p.H269H		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1			protein-O-mannose kinase	269																	TGCCTTTCCACGATGATCTCA	0.537000													15	6					0	0	1	0	0
IPO11	51194	broad.mit.edu	37	5	61778976	61778976	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr5:61778976C>G	ENST00000325324.6	+	10	1046	c.877C>G	c.(877-879)Cag>Gag	p.Q293E	IPO11_ENST00000409296.3_Missense_Mutation_p.Q333E|KIF2A_ENST00000509663.2_Intron	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	293						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TCCTCTAATTCAGAGATCACT	0.299000													12	26					0	0	1	0	0
GRB10	2887	broad.mit.edu	37	7	50671774	50671774	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr7:50671774T>C	ENST00000403097.1	-	16	2227	c.1447A>G	c.(1447-1449)Agg>Ggg	p.R483G	GRB10_ENST00000398812.2_Missense_Mutation_p.R489G|GRB10_ENST00000406641.1_Missense_Mutation_p.R431G|GRB10_ENST00000401949.1_Missense_Mutation_p.R489G|GRB10_ENST00000407526.1_Missense_Mutation_p.R431G|GRB10_ENST00000398810.2_Missense_Mutation_p.R431G|GRB10_ENST00000439599.1_Missense_Mutation_p.R483G|GRB10_ENST00000402578.1_Missense_Mutation_p.R431G|GRB10_ENST00000357271.5_Missense_Mutation_p.R443G|GRB10_ENST00000335866.3_Missense_Mutation_p.R431G|GRB10_ENST00000402497.1_Missense_Mutation_p.R431G			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	489					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					TGCTGTGTCCTGTGAATCACT	0.542000									Russell-Silver syndrome				4	92					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147743990	147743990	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chrX:147743990G>C	ENST00000370460.2	+	3	1221	c.742G>C	c.(742-744)Gcg>Ccg	p.A248P	AFF2_ENST00000370457.5_Missense_Mutation_p.A244P|AFF2_ENST00000370458.1_Missense_Mutation_p.A244P|AFF2_ENST00000342251.3_Missense_Mutation_p.A244P	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	248					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CGCCGTGCAAGCGCCTGGGTC	0.463000													33	61					0	0	1	0	0
SNX14	57231	broad.mit.edu	37	6	86252970	86252970	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr6:86252970A>G	ENST00000314673.3	-	14	1495	c.1319T>C	c.(1318-1320)tTt>tCt	p.F440S	SNX14_ENST00000346348.3_Missense_Mutation_p.F396S|SNX14_ENST00000369627.2_Missense_Mutation_p.F440S|SNX14_ENST00000505648.1_Missense_Mutation_p.F388S|SNX14_ENST00000513865.1_Intron|SNX14_ENST00000508980.1_5'UTR	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	440	RGS.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		ATATGCTTCAAAAAGACATCT	0.308000													22	126					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329396	88329396	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr13:88329396G>A	ENST00000325089.6	+	2	1972	c.1753G>A	c.(1753-1755)Gtc>Atc	p.V585I	SLITRK5_ENST00000400028.3_Missense_Mutation_p.V344I	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	585	LRRCT 2.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CAAAGTGGGCGTCCTAGTGGA	0.522000													55	46					0	0	1	0	0
C19orf12	83636	broad.mit.edu	37	19	30199320	30199320	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr19:30199320T>C	ENST00000392278.2	-	2	160	c.34A>G	c.(34-36)Atg>Gtg	p.M12V	C19orf12_ENST00000392275.1_Intron|C19orf12_ENST00000592153.1_Start_Codon_SNP_p.M1V|C19orf12_ENST00000392276.1_Intron|C19orf12_ENST00000323670.9_Start_Codon_SNP_p.M1V	NM_001031726.3	NP_001026896.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	1						integral to membrane						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			ATGATAGTCATCGTGGCGGGC	0.512000													26	35					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31327779	31327779	+	Silent	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr15:31327779G>A	ENST00000542188.1	-	20	3034	c.2721C>T	c.(2719-2721)atC>atT	p.I907I	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Silent_p.I890I|TRPM1_ENST00000397795.2_Silent_p.I868I|RP11-348B17.1_ENST00000558755.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	868					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCAGGCTCACGATGTAGGAGA	0.542000													22	23					0	0	1	0	0
UBE2F	140739	broad.mit.edu	37	2	238903410	238903410	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr2:238903410A>C	ENST00000272930.4	+	4	367	c.173A>C	c.(172-174)gAt>gCt	p.D58A	UBE2F-SCLY_ENST00000449191.1_Missense_Mutation_p.D58A|UBE2F_ENST00000409953.1_Missense_Mutation_p.D34A|UBE2F_ENST00000414443.1_Intron|UBE2F_ENST00000409633.1_Missense_Mutation_p.D58A|UBE2F_ENST00000409332.1_Intron	NM_001278305.1|NM_080678.2	NP_001265234.1|NP_542409.1	Q969M7	UBE2F_HUMAN	ubiquitin-conjugating enzyme E2F (putative)	58					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding			endometrium(1)|large_intestine(1)	2		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		CATTTTCCTGATCCAAACAAG	0.403000													10	26					0	0	1	0	0
GLB1L2	89944	broad.mit.edu	37	11	134244910	134244910	+	Silent	SNP	C	C	T	rs140543170	by1000genomes	TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr11:134244910C>T	ENST00000535456.2	+	19	2057	c.1869C>T	c.(1867-1869)ttC>ttT	p.F623F	GLB1L2_ENST00000339772.7_Silent_p.F623F|GLB1L2_ENST00000389881.3_Silent_p.F623F|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	623					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CATTACAGTTCACGGAAACCC	0.632000													6	18					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48888540	48888540	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr15:48888540A>G	ENST00000316623.5	-	6	933	c.478T>C	c.(478-480)Tgt>Cgt	p.C160R		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	160	EGF-like 3.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGGGCCACACACCTTCCTCCA	0.413000													19	38					0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47767664	47767664	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr11:47767664C>T	ENST00000263773.5	-	7	1201	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	397										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TCTTCCTCCTCACTTTCTCCA	0.388000													4	123					0	0	1	0	0
PIGG	54872	broad.mit.edu	37	4	533031	533031	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr4:533031G>A	ENST00000453061.2	+	13	2931	c.2825G>A	c.(2824-2826)cGt>cAt	p.R942H	PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.R809H|PIGG_ENST00000504346.1_Missense_Mutation_p.R853H|PIGG_ENST00000310340.5_Missense_Mutation_p.R934H	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													26	15					0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142434019	142434019	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr5:142434019C>T	ENST00000378004.3	+	15	1656	c.1301C>T	c.(1300-1302)tCt>tTt	p.S434F	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.S434F	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	434	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGACTGCTTCTGAGACAGAA	0.398000													32	165					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286448	152286448	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr1:152286448C>T	ENST00000368799.1	-	3	949	c.914G>A	c.(913-915)gGa>gAa	p.G305E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	305	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)			TTCTGAGTGTCCCTCACTGTC	0.542000									Ichthyosis				17	169					0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6177330	6177330	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr19:6177330G>T	ENST00000588304.1	+	8	1125	c.679G>T	c.(679-681)Gca>Tca	p.A227S	ACSBG2_ENST00000586696.1_Missense_Mutation_p.A277S|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000591403.1_Missense_Mutation_p.A277S|ACSBG2_ENST00000252669.5_Missense_Mutation_p.A277S|ACSBG2_ENST00000588485.1_Missense_Mutation_p.A90S			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	277					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGCCATATTGCAGCACAGAT	0.478000													13	19					9.05144e-12	1.04007e-11	1	1	0
SLC35F6	54978	broad.mit.edu	37	2	26997984	26997984	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr2:26997984C>A	ENST00000344420.5	+	3	285	c.223C>A	c.(223-225)Caa>Aaa	p.Q75K	CENPA_ENST00000475662.1_Intron|SLC35F6_ENST00000482746.1_Intron|SLC35F6_ENST00000416475.2_Intron	NM_017877.3	NP_060347.2			solute carrier family 35, member F6																		AGCTGCAGGGCAATCAGACTC	0.587000													6	14					0.0215528	0.0221515	1	1	0
TBC1D1	23216	broad.mit.edu	37	4	38117462	38117462	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr4:38117462G>T	ENST00000261439.4	+	16	3044	c.2689G>T	c.(2689-2691)Gca>Tca	p.A897S	TBC1D1_ENST00000508802.1_Missense_Mutation_p.A991S|TBC1D1_ENST00000407365.1_3'UTR	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	897	Rab-GAP TBC.					nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CAGCTTTGTAGCAGGCATTTT	0.468000													17	99					1.56452e-12	1.80898e-12	1	1	0
ANKRD34B	340120	broad.mit.edu	37	5	79854881	79854881	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr5:79854881C>T	ENST00000338682.3	-	5	1630	c.958G>A	c.(958-960)Gat>Aat	p.D320N		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	320						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TTTATTTCATCATATGACATC	0.408000													7	52					0	0	1	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140740785	140740785	+	Silent	SNP	A	A	G			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr5:140740785A>G	ENST00000522605.1	+	1	1083	c.1083A>G	c.(1081-1083)ccA>ccG	p.P361P	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGATTCGCCACCAGGAACAG	0.443000													10	27					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	979749	979749	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr1:979749G>C	ENST00000379370.2	+	12	2234	c.2184G>C	c.(2182-2184)gaG>gaC	p.E728D		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	728	Kazal-like 8.				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)		ACAGCACCGAGTGTGAGCTGA	0.692000													3	11					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71413726	71413726	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr14:71413726G>C	ENST00000304743.2	+	2	694	c.248G>C	c.(247-249)aGa>aCa	p.R83T	PCNX_ENST00000238570.5_Missense_Mutation_p.R83T|PCNX_ENST00000439984.3_Missense_Mutation_p.R83T	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	83						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CGACTACACAGAGCACTTGAT	0.428000													4	23					0	0	1	0	0
PMS1	5378	broad.mit.edu	37	2	190719187	190719187	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr2:190719187G>C	ENST00000441310.2	+	9	1422	c.1189G>C	c.(1189-1191)Gat>Cat	p.D397H	PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000432292.3_Missense_Mutation_p.D221H|PMS1_ENST00000447232.2_Missense_Mutation_p.D397H|PMS1_ENST00000409823.3_Missense_Mutation_p.D358H|PMS1_ENST00000418224.3_Missense_Mutation_p.D221H	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	397					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TATGCATAATGATGAATCTGG	0.303000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					18	75					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42054412	42054412	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr15:42054412G>C	ENST00000219905.7	+	22	7777	c.7596G>C	c.(7594-7596)aaG>aaC	p.K2532N	MGA_ENST00000545763.1_Missense_Mutation_p.K2323N|MGA_ENST00000389936.4_Missense_Mutation_p.K2493N|MGA_ENST00000570161.1_Missense_Mutation_p.K2532N|MGA_ENST00000566586.1_Missense_Mutation_p.K2323N	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2493						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GAAAAAAGAAGATGGGATCAG	0.373000													7	19					0	0	1	0	0
ZNF502	91392	broad.mit.edu	37	3	44762949	44762949	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr3:44762949G>C	ENST00000296091.4	+	4	896	c.640G>C	c.(640-642)Gag>Cag	p.E214Q	ZNF502_ENST00000436624.2_Missense_Mutation_p.E214Q|ZNF502_ENST00000449836.1_Missense_Mutation_p.E214Q	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		ATATGGATGTGAGCAGTGTGG	0.403000													37	57					0	0	1	0	0
DNAAF2	55172	broad.mit.edu	37	14	50101108	50101108	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr14:50101108G>A	ENST00000298292.8	-	1	840	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C	DNAAF2_ENST00000406043.3_Missense_Mutation_p.R254C	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	254					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						ACGCTGTAGCGAGGCTCGGTG	0.711000													3	5					0	0	1	0	0
CAPN1	823	broad.mit.edu	37	11	64954754	64954754	+	Silent	SNP	G	G	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr11:64954754G>C	ENST00000527323.1	+	6	1068	c.828G>C	c.(826-828)gtG>gtC	p.V276V	CAPN1_ENST00000533129.1_Silent_p.V276V|CAPN1_ENST00000279247.6_Silent_p.V276V|CAPN1_ENST00000524773.1_Silent_p.V276V|CAPN1_ENST00000533820.1_Silent_p.V276V			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	276	Calpain catalytic.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CCTACTCTGTGACCGGGGCCA	0.607000													4	4					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654759	46654759	+	Silent	SNP	G	G	A	rs141748832	byFrequency	TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr22:46654759G>A	ENST00000253255.5	-	1	4460	c.4461C>T	c.(4459-4461)taC>taT	p.Y1487Y		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1487					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	p.Y1487Y(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TAGCAGTTTCGTAAGCATGCC	0.488000													22	71					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28441665	28441665	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr15:28441665G>A	ENST00000261609.7	-	51	8170	c.8062C>T	c.(8062-8064)Cac>Tac	p.H2688Y		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2688					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)		CCAGTCCAGTGAGACTGCTGG	0.428000													23	43					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525347	248525347	+	Silent	SNP	C	C	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr1:248525347C>T	ENST00000366475.1	+	1	465	c.465C>T	c.(463-465)taC>taT	p.Y155Y		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGACCGCTACGTGGCCATCT	0.527000													40	41					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73046531	73046531	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr10:73046531G>C	ENST00000335350.6	+	5	1054	c.638G>C	c.(637-639)cGc>cCc	p.R213P	UNC5B_ENST00000373192.4_Missense_Mutation_p.R213P	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	213	Ig-like C2-type.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CTCATCATCCGCCAGGCCCGC	0.602000													37	44					0	0	1	0	0
PIGB	9488	broad.mit.edu	37	15	55621987	55621987	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr15:55621987G>A	ENST00000164305.5	+	5	879	c.588G>A	c.(586-588)atG>atA	p.M196I	PIGB_ENST00000539642.1_Start_Codon_SNP_p.M1I	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	196					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CAAACACCATGGAAACTGTTC	0.328000													17	76					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919109	12919109	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr1:12919109T>A	ENST00000240189.2	+	2	332	c.245T>A	c.(244-246)cTg>cAg	p.L82Q		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	82										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAAGCATTGCTGGAAGGGCTT	0.552000													51	99					0	0	1	0	0
NCAPH	23397	broad.mit.edu	37	2	97026364	97026364	+	Silent	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr2:97026364G>A	ENST00000455200.1	+	12	1765	c.1470G>A	c.(1468-1470)caG>caA	p.Q490Q	NCAPH_ENST00000240423.4_Silent_p.Q501Q|NCAPH_ENST00000427946.1_Silent_p.Q365Q			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	501					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				TGGAGAACCAGAATTGGAGAG	0.403000													22	277					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198265449	198265449	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr2:198265449T>G	ENST00000335508.6	-	18	2799	c.2708A>C	c.(2707-2709)cAg>cCg	p.Q903P		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTCTGTAGTCTGTTCTTGGAA	0.313000			Mis		myelodysplastic syndrome								4	32					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43433657	43433657	+	RNA	SNP	C	C	G			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr19:43433657C>G	ENST00000446844.3	-	0	735				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				ATTTCACATTCATAGGGTCCT	0.517000													10	202					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156534434	156534434	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr1:156534434C>A	ENST00000361170.2	-	5	420	c.410G>T	c.(409-411)cGg>cTg	p.R137L		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	137	CH.				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)					GTAGACTACCCGGGGCATGTT	0.478000													5	68					0.000602214	0.000629433	1	1	0
HNRNPF	3185	broad.mit.edu	37	10	43883162	43883162	+	Silent	SNP	A	A	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr10:43883162A>C	ENST00000443950.2	-	3	657	c.171T>G	c.(169-171)gcT>gcG	p.A57A	HNRNPF_ENST00000337970.3_Silent_p.A57A|HNRNPF_ENST00000544000.1_Silent_p.A57A|HNRNPF_ENST00000498176.1_5'UTR|HNRNPF_ENST00000357065.4_Silent_p.A57A|HNRNPF_ENST00000356053.3_Silent_p.A57A	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	57	RRM 1.				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						GTTCAACAAAAGCCTCACCAC	0.488000													10	42					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127666309	127666309	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr5:127666309C>G	ENST00000508053.1	-	39	5275	c.4301G>C	c.(4300-4302)tGt>tCt	p.C1434S	FBN2_ENST00000262464.4_Missense_Mutation_p.C1434S|FBN2_ENST00000508989.1_Missense_Mutation_p.C1401S|FBN2_ENST00000507835.1_Missense_Mutation_p.C284S			P35556	FBN2_HUMAN	fibrillin 2	1434	EGF-like 23; calcium-binding.		C -> S (in CCA).		bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGAGCAGGCACAGCGGTATGA	0.502000													6	21					0	0	1	0	0
TLK1	9874	broad.mit.edu	37	2	171913026	171913026	+	Silent	SNP	G	G	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr2:171913026G>A	ENST00000442919.2	-	6	975	c.360C>T	c.(358-360)atC>atT	p.I120I	TLK1_ENST00000521943.1_Silent_p.I120I|TLK1_ENST00000431350.2_Silent_p.I168I|TLK1_ENST00000486857.1_5'UTR|TLK1_ENST00000434911.2_Silent_p.I72I|TLK1_ENST00000360843.3_Silent_p.I189I	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	168					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GAGGAGAACGGATTGCAGGAG	0.413000													42	63					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88769681	88769681	+	RNA	SNP	G	G	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr10:88769681G>T	ENST00000444431.1	+	0	4281				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										TTATTTGACTGCAGTCTCCTT	0.443000													15	23					1.5739e-10	1.78632e-10	1	1	0
SPEN	23013	broad.mit.edu	37	1	16260123	16260123	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr1:16260123G>C	ENST00000375759.3	+	11	7592	c.7388G>C	c.(7387-7389)aGc>aCc	p.S2463T		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2463	Interaction with MSX2 (By similarity).|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)		ACCCCACCCAGCGATCCAAGC	0.612000													5	24					0	0	1	0	0
CUL2	8453	broad.mit.edu	37	10	35320309	35320309	+	Nonsense_Mutation	SNP	G	G	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr10:35320309G>C	ENST00000374748.1	-	15	1618	c.1305C>G	c.(1303-1305)taC>taG	p.Y435*	CUL2_ENST00000374751.3_Nonsense_Mutation_p.Y435*|CUL2_ENST00000537177.1_Nonsense_Mutation_p.Y454*|CUL2_ENST00000602371.1_Nonsense_Mutation_p.Y378*|CUL2_ENST00000374746.1_Nonsense_Mutation_p.Y435*|CUL2_ENST00000374742.1_Nonsense_Mutation_p.Y435*|CUL2_ENST00000374749.3_Nonsense_Mutation_p.Y435*			Q13617	CUL2_HUMAN	cullin 2	435					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						GCATTCTTGCGTAGAACTACA	0.299000													8	69					0	0	1	0	0
FAM196A	642938	broad.mit.edu	37	10	128974576	128974576	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr10:128974576C>T	ENST00000522781.1	-	4	639	c.84G>A	c.(82-84)atG>atA	p.M28I	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.M28I	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	28										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGGCGTATTTCATCTCCAGGG	0.542000													22	71					0	0	1	0	0
HIST1H4C	8364	broad.mit.edu	37	6	26104215	26104215	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr6:26104215G>C	ENST00000377803.2	+	1	112	c.40G>C	c.(40-42)Ggt>Cgt	p.G14R		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	14					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						CTTGGGGAAGGGTGGTGCTAA	0.542000													4	43					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56827380	56827380	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr12:56827380T>G	ENST00000229201.4	-	4	462	c.308A>C	c.(307-309)gAg>gCg	p.E103A	TIMELESS_ENST00000553532.1_Missense_Mutation_p.E103A|TIMELESS_ENST00000554616.1_Missense_Mutation_p.E103A	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	103					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AAAGCTGGGCTCCTTAGGCAG	0.483000													31	20					0	0	1	0	0
OR2K2	26248	broad.mit.edu	37	9	114090535	114090535	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr9:114090535T>C	ENST00000374428.1	-	1	265	c.266A>G	c.(265-267)tAc>tGc	p.Y89C	OR2K2_ENST00000302681.1_Missense_Mutation_p.Y60C			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						AAGGAATAAGTACATGGGGGT	0.418000													11	19					0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	859021	859021	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr10:859021C>G	ENST00000316157.3	-	17	2102	c.2062G>C	c.(2062-2064)Gag>Cag	p.E688Q		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	688							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TCTGCGGGCTCTGCCAGCTTC	0.617000													36	83					0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100962575	100962575	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr11:100962575C>T	ENST00000325455.5	-	3	3275	c.1822G>A	c.(1822-1824)Gac>Aac	p.D608N	PGR_ENST00000263463.5_Missense_Mutation_p.D608N|PGR_ENST00000534013.1_Missense_Mutation_p.D14N	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	608					cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	ACGATGCAGTCATTTCTTCCA	0.393000													7	27					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50280446	50280446	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr2:50280446C>T	ENST00000404971.1	-	22	5550	c.4211G>A	c.(4210-4212)aGa>aAa	p.R1404K	NRXN1_ENST00000342183.5_Missense_Mutation_p.R299K|NRXN1_ENST00000401710.1_Missense_Mutation_p.R352K|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1364K|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1356K|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1356K|NRXN1_ENST00000406859.3_Missense_Mutation_p.R1334K|NRXN1_ENST00000406316.2_Missense_Mutation_p.R1334K	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1334					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTTTCCTCTTCTGGCTGTGCT	0.453000													41	30					0	0	1	0	0
RHOB	388	broad.mit.edu	37	2	20647449	20647449	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr2:20647449C>T	ENST00000272233.4	+	1	615	c.223C>T	c.(223-225)Ccg>Tcg	p.P75S		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	75					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		GCTCTCCTACCCGGACACCGA	0.647000													54	25					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120759045	120759045	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr8:120759045G>C	ENST00000378164.2	-	23	3306	c.3008C>G	c.(3007-3009)gCt>gGt	p.A1003G		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1003					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATTCAAGACAGCTTTTTTCTC	0.453000													48	121					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374713	8374713	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr12:8374713C>G	ENST00000538603.1	-	7	1658	c.1100G>C	c.(1099-1101)aGa>aCa	p.R367T	FAM90A1_ENST00000307435.6_Missense_Mutation_p.R367T	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	367							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		CAGGCAAGGTCTGCTGTGCGG	0.662000													6	45					0	0	1	0	0
IGHV3-49	28423	broad.mit.edu	37	14	107012940	107012940	+	RNA	SNP	T	T	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr14:107012940T>C	ENST00000390625.2	-	0	434																											ACTGTGTCTCTAGTACAGTAA	0.547000													54	67					0	0	1	0	0
CRLF1	9244	broad.mit.edu	37	19	18709315	18709315	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr19:18709315C>G	ENST00000392386.3	-	4	817	c.624G>C	c.(622-624)gaG>gaC	p.E208D		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	208	Fibronectin type-III 1.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CCACCCAGATCTCATAGGGCG	0.622000													3	82					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21876685	21876685	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr14:21876685C>A	ENST00000399982.2	-	12	2580	c.2516G>T	c.(2515-2517)gGa>gTa	p.G839V	CHD8_ENST00000557364.1_Missense_Mutation_p.G839V|CHD8_ENST00000430710.3_Missense_Mutation_p.G560V|CHD8_ENST00000555962.1_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	839	Helicase ATP-binding.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTTGCCCAATCCCATCTCATC	0.403000													8	17					0.000157383	0.000167333	1	1	0
OLFM3	118427	broad.mit.edu	37	1	102270271	102270271	+	Silent	SNP	C	C	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr1:102270271C>A	ENST00000370103.4	-	6	1113	c.900G>T	c.(898-900)ggG>ggT	p.G300G	OLFM3_ENST00000338858.5_Silent_p.G320G|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	320	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CAAGCACTCTCCCCATATCAA	0.423000													13	52					7.03913e-09	7.79783e-09	1	1	0
DICER1	23405	broad.mit.edu	37	14	95574089	95574089	+	Missense_Mutation	SNP	G	G	C	rs139441077		TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr14:95574089G>C	ENST00000526495.1	-	19	2951	c.2660C>G	c.(2659-2661)tCc>tGc	p.S887C	DICER1_ENST00000343455.3_Missense_Mutation_p.S887C|DICER1_ENST00000541352.1_Missense_Mutation_p.S887C|DICER1_ENST00000527414.1_Missense_Mutation_p.S887C|DICER1_ENST00000393063.1_Missense_Mutation_p.S887C			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	887					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CAAAGTGCTGGAGTCATTAAC	0.343000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				12	32					0	0	1	0	0
TOMM70A	9868	broad.mit.edu	37	3	100087960	100087962	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr3:100087960_100087962delTGT	ENST00000284320.5	-	10	1918_1920	c.1470_1472delACA	c.(1468-1473)caacag>cag	p.490_491QQ>Q		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	490					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						TTTACCAAACTGTTGTTGATCTG	0.296													17	67	---	---	---	---					
CPEB2	132864	broad.mit.edu	37	4	15005738	15005739	+	In_Frame_Ins	INS	-	-	GCG			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr4:15005738_15005739insGCG	ENST00000538197.1	+	1	1441_1442	c.1441_1442insGCG	c.(1441-1443)agc>aGCGgc	p.487_488insG	CPEB2_ENST00000259997.5_In_Frame_Ins_p.50_51insG|CPEB2_ENST00000382395.3_In_Frame_Ins_p.50_51insG|CPEB2_ENST00000541112.1_In_Frame_Ins_p.487_488insG|CPEB2_ENST00000442003.2_In_Frame_Ins_p.487_488insG|CPEB2_ENST00000507071.1_In_Frame_Ins_p.50_51insG|CPEB2_ENST00000345451.3_In_Frame_Ins_p.50_51insG|CPEB2_ENST00000382401.3_In_Frame_Ins_p.50_51insG	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	50	RRM 2.				regulation of translation	cytoplasm	nucleotide binding|RNA binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						CGTTCCGACGAgcggcggcggc	0.728													3	3	---	---	---	---					
C4orf22	255119	broad.mit.edu	37	4	81791253	81791254	+	Frame_Shift_Ins	INS	-	-	A	rs146690045		TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr4:81791253_81791254insA	ENST00000358105.3	+	4	489_490	c.440_441insA	c.(439-444)ggaaaafs	p.GK147fs	C4orf22_ENST00000508675.1_Frame_Shift_Ins_p.GK164fs	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	147								p.G147E(1)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TACTTTACTGGAAAAAAAAGAC	0.371													16	60	---	---	---	---					
EXOC3	11336	broad.mit.edu	37	5	453910	453913	+	Frame_Shift_Del	DEL	CAGG	CAGG	-			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr5:453910_453913delCAGG	ENST00000512944.1	+	4	979_982	c.790_793delCAGG	c.(790-795)caggcafs	p.QA264fs	EXOC3_ENST00000315013.5_Frame_Shift_Del_p.QA264fs	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	275					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGAGGGCACACAGGCAGATACCAG	0.490													9	34	---	---	---	---					
FAM66B	100128890	broad.mit.edu	37	8	7196263	7196264	+	RNA	DEL	AC	AC	-			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr8:7196263_7196264delAC	ENST00000606573.1	-	0	703																											ACTGAGGGGTacacacacacac	0.500													2	4	---	---	---	---					
PLAT	5327	broad.mit.edu	37	8	42042656	42042657	+	Frame_Shift_Ins	INS	-	-	GTAG			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr8:42042656_42042657insGTAG	ENST00000220809.4	-	7	829_830	c.573_574insCTAC	c.(571-576)tacgtcfs	p.V192fs	PLAT_ENST00000429710.2_Intron|PLAT_ENST00000429089.2_Frame_Shift_Ins_p.V192fs|PLAT_ENST00000352041.3_Frame_Shift_Ins_p.V146fs|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000519510.1_Frame_Shift_Ins_p.V129fs|PLAT_ENST00000270189.6_Frame_Shift_Ins_p.V192fs	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	192	Kringle 1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GCCTTAAAGACGTAGCACCAGG	0.574													7	17	---	---	---	---					
ZNF215	7762	broad.mit.edu	37	11	6977483	6977491	+	In_Frame_Del	DEL	TCAAAAACT	TCAAAAACT	-			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr11:6977483_6977491delTCAAAAACT	ENST00000278319.5	+	7	1863_1871	c.1275_1283delTCAAAAACT	c.(1273-1284)catcaaaaactt>cat	p.QKL426del	ZNF215_ENST00000414517.2_In_Frame_Del_p.QKL426del|ZNF215_ENST00000529903.1_Intron	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	426					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TTACTAAGCATCAAAAACTTCATGCTGAA	0.397													10	25	---	---	---	---					
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	A	-			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr11:43283606delA	ENST00000511537.1	-	0	1329					NR_033868.1																						AAGCAAATGTAAAAAAAAAAA	0.388													3	5	---	---	---	---					
RTN3	10313	broad.mit.edu	37	11	63486281	63486282	+	Frame_Shift_Ins	INS	-	-	A			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr11:63486281_63486282insA	ENST00000377819.5	+	3	461_462	c.307_308insA	c.(307-309)gaafs	p.E103fs	RTN3_ENST00000339997.4_Frame_Shift_Ins_p.E84fs|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000540798.1_Intron|RTN3_ENST00000356000.3_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	103					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						ACTACATGGAGAAAAAAGCCAT	0.406													12	38	---	---	---	---					
VSIG2	23584	broad.mit.edu	37	11	124621320	124621324	+	Splice_Site	DEL	GGATG	GGATG	-			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr11:124621320_124621324delGGATG	ENST00000403470.1	-	2	269_273	c.214_218delCATCC	c.(214-219)catcca>a	p.HP72fs	VSIG2_ENST00000326621.5_Splice_Site_p.HP72fs			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	72	Ig-like V-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		TCAGCTCACTGGATGGGACTCAGAG	0.615													8	38	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49448448	49448448	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr12:49448448delG	ENST00000301067.7	-	3	262	c.263delC	c.(262-264)ccafs	p.P88fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCAATCAAATGGCAACTCAAA	0.627													4	3	---	---	---	---					
FOXA1	3169	broad.mit.edu	37	14	38060573	38060573	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr14:38060573delG	ENST00000250448.2	-	2	1477	c.1416delC	c.(1414-1416)tccfs	p.S472fs	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Frame_Shift_Del_p.S439fs	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	472					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CCGGGAGCTAGGAAGTGTTTA	0.557													10	22	---	---	---	---					
ZFP36L1	677	broad.mit.edu	37	14	69256578	69256578	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr14:69256578delG	ENST00000439696.2	-	2	990	c.689delC	c.(688-690)cctfs	p.P230fs	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Del_p.P230fs	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	230					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCTCAGAATAGGGGGTGGGGT	0.637											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	64	---	---	---	---					
ZFP36L1	677	broad.mit.edu	37	14	69259606	69259624	+	Frame_Shift_Del	DEL	AAAACTTCGCTCAAGTCGA	AAAACTTCGCTCAAGTCGA	-			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr14:69259606_69259624delAAAACTTCGCTCAAGTCGA	ENST00000439696.2	-	1	333_351	c.32_50delTCGACTTGAGCGAAGTTTT	c.(31-51)ttcgacttgagcgaagttttafs	p.FDLSEVL11fs	ZFP36L1_ENST00000336440.3_Frame_Shift_Del_p.FDLSEVL11fs	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	11					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F11L(1)|p.F11F(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TACCTTGCATAAAACTTCGCTCAAGTCGAAGATGGTGGC	0.548													18	82	---	---	---	---					
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs3832971		TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gaggcg>gcg	p.E38del	MAP3K9_ENST00000381250.4_In_Frame_Del_p.E38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.E38del	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773													3	5	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933																											AACCTGTACTCGCGTCGGAACC	0.589													3	6	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578474	7578475	+	Frame_Shift_Ins	INS	-	-	G	rs137852790		TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr17:7578474_7578475insG	ENST00000420246.2	-	5	587_588	c.455_456insC	c.(454-456)ccgfs	p.P152fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.P152fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.P152fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.P152fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.P152fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.P152fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	152	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (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.P152L(66)|p.P153fs*28(9)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.P152P(5)|p.?(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.G154fs*16(1)|p.P152fs*27(1)|p.P20R(1)|p.P59R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.G154fs*27(1)|p.P152_P153insXXX(1)|p.Q144fs*16(1)|p.T18fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGGTGCCGGGCGGGGGTGTGGA	0.614		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)			20	30	---	---	---	---					
KANSL1	284058	broad.mit.edu	37	17	44116518	44116519	+	Frame_Shift_Ins	INS	-	-	C			TCGA-G2-AA3F-01A-12D-A42E-08	TCGA-G2-AA3F-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dc93d39-a6c4-4faa-a720-46998bb9b304	f26ee1b3-4d5f-42f9-8313-3c0931c2370a	g.chr17:44116518_44116519insC	ENST00000262419.6	-	9	2736_2737	c.2266_2267insG	c.(2266-2268)gccfs	p.A756fs	KANSL1_ENST00000432791.1_Frame_Shift_Ins_p.A756fs|KANSL1_ENST00000572904.1_Frame_Shift_Ins_p.A756fs|KANSL1_ENST00000393476.3_Intron|KANSL1_ENST00000574590.1_Frame_Shift_Ins_p.A756fs|KANSL1_ENST00000575318.1_Intron	NM_001193466.1	NP_001180395	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	756						MLL1 complex	protein binding										CATGGGCACGGCCCCCACATCG	0.564													10	25	---	---	---	---