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
AADACL3	126767	broad.mit.edu	37	1	12785441	12785441	+	Silent	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr1:12785441G>A	ENST00000332530.3	+	3	547	c.321G>A	c.(319-321)tcG>tcA	p.S107S	AADACL3_ENST00000359318.5_Silent_p.S177S	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	177							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AAACCCCTTCGTTTCAACAGA	0.488000													47	154					0	0	1	0	0
POGLUT1	56983	broad.mit.edu	37	3	119187888	119187888	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:119187888C>G	ENST00000295588.4	+	1	104	c.20C>G	c.(19-21)tCg>tGg	p.S7W		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	7						endoplasmic reticulum lumen	UDP-glucosyltransferase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						TGGGCTAGCTCGCCGCTTCGG	0.711000													12	18					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144991031	144991031	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr8:144991031C>T	ENST00000322810.4	-	32	13538	c.13369G>A	c.(13369-13371)Ggc>Agc	p.G4457S	PLEC_ENST00000527096.1_Missense_Mutation_p.G4343S|PLEC_ENST00000357649.2_Missense_Mutation_p.G4324S|PLEC_ENST00000398774.2_Missense_Mutation_p.G4288S|PLEC_ENST00000354589.3_Missense_Mutation_p.G4320S|PLEC_ENST00000356346.3_Missense_Mutation_p.G4306S|PLEC_ENST00000436759.2_Missense_Mutation_p.G4347S|PLEC_ENST00000354958.2_Missense_Mutation_p.G4298S|PLEC_ENST00000345136.3_Missense_Mutation_p.G4320S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4457	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCGATGATGCCCCCGGTGCAG	0.652000													4	113					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238287314	238287314	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:238287314C>T	ENST00000295550.4	-	6	2914	c.2462G>A	c.(2461-2463)aGt>aAt	p.S821N	COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000392003.2_Missense_Mutation_p.S414N|COL6A3_ENST00000392004.3_Missense_Mutation_p.S615N|COL6A3_ENST00000347401.3_Missense_Mutation_p.S620N|COL6A3_ENST00000353578.4_Missense_Mutation_p.S615N|COL6A3_ENST00000409809.1_Missense_Mutation_p.S615N|COL6A3_ENST00000472056.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	821	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CACACCTCCACTAACATATGT	0.537000													6	175					0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19316068	19316068	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr17:19316068C>T	ENST00000461366.1	+	3	568	c.353C>T	c.(352-354)cCg>cTg	p.P118L	RNF112_ENST00000580109.1_3'UTR|CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	118							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						AAGCTCCTGCCGCAGCGGCCG	0.642000													4	67					0	0	1	0	0
C12orf74	338809	broad.mit.edu	37	12	93100524	93100524	+	Silent	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr12:93100524G>A	ENST00000544406.2	+	2	383	c.117G>A	c.(115-117)cgG>cgA	p.R39R	C12orf74_ENST00000397833.3_Silent_p.R39R			Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	39										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						AGTTTGACCGGCAAGCCCCAG	0.627000													4	103					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145293269	145293269	+	Splice_Site	SNP	G	G	A	rs61350760	by1000genomes	TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr1:145293269G>A	ENST00000369338.1	+	1	155		c.e1+1		NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_Splice_Site			A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10											NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTTCACAACAGTAAGTTAAGA	0.423000													5	87					0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42147675	42147675	+	Splice_Site	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr8:42147675C>T	ENST00000520810.1	+	4	388	c.200_splice	c.e4-1	p.L68_splice	IKBKB_ENST00000416505.2_Splice_Site_p.L9_splice|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Splice_Site_p.L66_splice|IKBKB_ENST00000519735.1_Splice_Site_p.L68_splice|IKBKB_ENST00000379708.3_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	68	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	TCCTCCTAGGCTGACCCACCC	0.627000													19	18					0	0	1	0	0
CUL5	8065	broad.mit.edu	37	11	107948957	107948957	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:107948957A>G	ENST00000393094.2	+	11	1784	c.1168A>G	c.(1168-1170)Aag>Gag	p.K390E		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	390					cell cycle arrest|cell proliferation|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|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		ATTACCTTTGAAGCAGAAGGG	0.264000													47	180					0	0	1	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													5	69					0	0	1	0	0
SLC16A6	9120	broad.mit.edu	37	17	66267106	66267106	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr17:66267106T>C	ENST00000327268.4	-	6	1359	c.1195A>G	c.(1195-1197)Ata>Gta	p.I399V	SLC16A6_ENST00000580666.1_Missense_Mutation_p.I399V|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	399						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GTCCCTCCTATTGTTCCAACC	0.443000													35	143					0	0	1	0	0
SUZ12P	0	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181	by1000genomes	TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr17:29061941T>C	ENST00000582557.1	+	0	861																											TAGATTTCTTTGAACTCGGAA	0.303000													4	60					0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18260436	18260436	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr19:18260436C>T	ENST00000262811.5	+	27	3830	c.3830C>T	c.(3829-3831)cCg>cTg	p.P1277L	AC007192.6_ENST00000600364.1_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	1277							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TTCGATGAGCCGCAGGAGGAG	0.667000													4	48					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43944870	43944870	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr12:43944870A>G	ENST00000389420.3	-	2	294	c.295T>C	c.(295-297)Ttt>Ctt	p.F99L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.F99L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	99						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCGGCCAGAAAGGATGCATCG	0.672000													7	42					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103282539	103282539	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr13:103282539G>A	ENST00000376052.3	+	10	1254	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E	TPP2_ENST00000376065.4_Missense_Mutation_p.G413E			P29144	TPP2_HUMAN	tripeptidyl peptidase II	413					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCTTCTAGAGGACCTAGGTAG	0.408000													12	41					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227663384	227663384	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:227663384C>T	ENST00000305123.4	-	1	1091	c.71G>A	c.(70-72)aGc>aAc	p.S24N		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	24	Mediates interaction with PHIP (By similarity).|PH.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TTTGTGCATGCTCTTGGGTTT	0.657000													4	99					0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762633	53762633	+	Silent	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr19:53762633C>T	ENST00000341702.3	+	1	1089	c.1005C>T	c.(1003-1005)taC>taT	p.Y335Y	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	335					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TCATCACCTACGTTTATTTAG	0.443000													19	97					0	0	1	0	0
SLFN12	55106	broad.mit.edu	37	17	33738466	33738466	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr17:33738466G>T	ENST00000394562.1	-	6	2151	c.1628C>A	c.(1627-1629)tCt>tAt	p.S543Y	SLFN12_ENST00000304905.5_Missense_Mutation_p.S543Y|SLFN12_ENST00000452764.3_Missense_Mutation_p.S543Y|SLFN12_ENST00000460530.1_5'UTR			Q8IYM2	SLN12_HUMAN	schlafen family member 12	543							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTCTCTCAGAGACTTGAGTCT	0.343000													29	40					4.87955e-14	4.87955e-14	1	1	0
JAG1	182	broad.mit.edu	37	20	10620233	10620233	+	Silent	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr20:10620233C>T	ENST00000254958.5	-	26	4085	c.3570G>A	c.(3568-3570)ccG>ccA	p.P1190P	JAG1_ENST00000423891.2_Silent_p.P1031P	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1190					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGTGTTTTGTCGGCGTGCCGT	0.542000									Alagille Syndrome				17	325					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								26	46					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15876277	15876277	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr16:15876277C>T	ENST00000338282.6	-	6	797	c.691G>A	c.(691-693)Gcc>Acc	p.A231T	MYH11_ENST00000576790.1_Missense_Mutation_p.A231T|MYH11_ENST00000396324.3_Missense_Mutation_p.A238T|MYH11_ENST00000452625.2_Missense_Mutation_p.A238T|MYH11_ENST00000300036.5_Missense_Mutation_p.A231T	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	231	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACTGTTTTGGCGTTGCCGAAA	0.468000			T	CBFB	AML								4	99					0	0	1	0	0
GNAT3	346562	broad.mit.edu	37	7	80108203	80108203	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr7:80108203A>G	ENST00000398291.3	-	4	508	c.415T>C	c.(415-417)Tgc>Cgc	p.C139R	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	139					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						CTTTCAAAGCAGGCCTGAATT	0.413000													65	107					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46285864	46285864	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr12:46285864A>T	ENST00000334344.6	+	18	5304	c.5132A>T	c.(5131-5133)cAg>cTg	p.Q1711L	ARID2_ENST00000444670.1_Missense_Mutation_p.Q1321L|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Missense_Mutation_p.Q319L|ARID2_ENST00000422737.1_Missense_Mutation_p.Q1562L	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1711					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCAGGAAGTCAGAAGTCTTCT	0.383000			"""N, S, F"""		hepatocellular carcinoma								6	41					0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138643994	138643994	+	Nonsense_Mutation	SNP	C	C	T	rs137852261		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chrX:138643994C>T	ENST00000218099.2	+	8	1157	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	F9_ENST00000394090.2_Nonsense_Mutation_p.R346*	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	384	Peptidase S1.		R -> L (in THR-FIX; factor IX Padua; higher specific activity than wild-type).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	p.R384*(3)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	CACATGTCTTCGATCTACAAA	0.463000													5	75					0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32932723	32932723	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:32932723G>A	ENST00000383763.4	+	4	2090	c.2027G>A	c.(2026-2028)cGc>cAc	p.R676H		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	676					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GACAATCATCGCATCCAGATC	0.592000													8	88					0	0	1	0	0
PAK6	56924	broad.mit.edu	37	15	40564820	40564820	+	Silent	SNP	C	C	T	rs149826022	byFrequency	TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr15:40564820C>T	ENST00000455577.2	+	6	2166	c.1254C>T	c.(1252-1254)acC>acT	p.T418T	PAK6_ENST00000441369.1_Silent_p.T418T|PAK6_ENST00000560346.1_Silent_p.T418T|PAK6_ENST00000542403.2_Silent_p.T418T|PAK6_ENST00000260404.4_Silent_p.T418T|PAK6_ENST00000453867.1_Silent_p.T418T|RP11-133K1.2_ENST00000558658.1_3'UTR	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	418	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		AGGGCTCCACCGGCATCGTCT	0.637000													41	51					0	0	1	0	0
EGR4	1961	broad.mit.edu	37	2	73519641	73519641	+	Silent	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:73519641A>G	ENST00000436467.2	-	2	792	c.405T>C	c.(403-405)gaT>gaC	p.D135D	EGR4_ENST00000545030.1_Silent_p.D238D			B7ZKU3	B7ZKU3_HUMAN	early growth response 4	134						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCAGCAAGGCATCGGACCCCG	0.682000													5	15					0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456174	5456174	+	Silent	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr19:5456174C>T	ENST00000222033.4	+	1	749	c.672C>T	c.(670-672)gtC>gtT	p.V224V		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	224	PA.					integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		ACCTGCGGGTCATCCTGGGCT	0.677000													11	132					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173526563	173526563	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr1:173526563C>T	ENST00000367714.3	-	10	1553	c.1131G>A	c.(1129-1131)tgG>tgA	p.W377*	SLC9C2_ENST00000536496.1_Nonsense_Mutation_p.W275*|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	377					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TAATTCCAGACCACGTGATTA	0.383000													92	111					0	0	1	0	0
OR6Q1	219952	broad.mit.edu	37	11	57798864	57798864	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:57798864G>A	ENST00000302622.3	+	1	463	c.440G>A	c.(439-441)cGt>cAt	p.R147H	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				ACCTGCATCCGTCTGGCAGCT	0.507000													5	126					0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24883542	24883542	+	Splice_Site	SNP	T	T	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr16:24883542T>G	ENST00000347898.3	+	5	994		c.e5+2		SLC5A11_ENST00000424767.2_Splice_Site|SLC5A11_ENST00000565769.1_Splice_Site|SLC5A11_ENST00000539472.1_Splice_Site|SLC5A11_ENST00000569071.1_Splice_Site|SLC5A11_ENST00000449109.2_Splice_Site|SLC5A11_ENST00000545376.1_Splice_Site|SLC5A11_ENST00000567758.1_Splice_Site|SLC5A11_ENST00000568579.1_Splice_Site	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11						apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GCTGGTCAGGTGAGTCGGGGG	0.552000													13	295					0	0	1	0	0
SREBF1	6720	broad.mit.edu	37	17	17723758	17723758	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr17:17723758C>T	ENST00000355815.4	-	3	428	c.259G>A	c.(259-261)Ggg>Agg	p.G87R	SREBF1_ENST00000435530.2_Missense_Mutation_p.G57R|SREBF1_ENST00000261646.5_Missense_Mutation_p.G57R|SREBF1_ENST00000583732.1_5'UTR|SREBF1_ENST00000338854.5_Missense_Mutation_p.G57R	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	57	Pro/Ser-rich.				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TCTGTGCCCCCTGCCCCACTC	0.587000													11	70					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14842610	14842610	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr9:14842610A>G	ENST00000380881.4	-	10	2260	c.1445T>C	c.(1444-1446)gTt>gCt	p.V482A	FREM1_ENST00000380880.3_Missense_Mutation_p.V481A|FREM1_ENST00000422223.2_Missense_Mutation_p.V481A			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	481					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGATAGCGAACAACTCCAGC	0.532000													130	11					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15561315	15561315	+	Missense_Mutation	SNP	C	C	T	rs150922478		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr10:15561315C>T	ENST00000378076.3	-	29	3432	c.3079G>A	c.(3079-3081)Gcc>Acc	p.A1027T		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	1027					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTTAAAATGGCGAGAACCAAC	0.373000													10	215					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39125630	39125630	+	Splice_Site	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr7:39125630C>T	ENST00000518318.2	+	2	231	c.190_splice	c.e2+1	p.F63_splice	POU6F2_ENST00000403058.1_Splice_Site_p.F63_splice|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Splice_Site_p.F55_splice|POU6F2_ENST00000464276.2_Splice_Site_p.F55_splice			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	63					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.F63F(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GCAAGCTCTTCGGTAAGTCTG	0.507000													5	42					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643289	1643289	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:1643289G>A	ENST00000399682.1	-	1	79	c.35C>T	c.(34-36)tCc>tTc	p.S12F		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	12						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)		cccacagccggagccacagcc	0.682000													28	251					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717461	13717461	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr12:13717461G>A	ENST00000279593.3	-	13	2920	c.2711C>T	c.(2710-2712)aCg>aTg	p.T904M		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	904					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTTCTTGGCCGTGCGCAGCAG	0.582000													9	290					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136467655	136467655	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:136467655G>A	ENST00000264160.4	+	22	2855	c.2485G>A	c.(2485-2487)Ggg>Agg	p.G829R	R3HDM1_ENST00000329971.3_Missense_Mutation_p.G700R|R3HDM1_ENST00000409606.1_Missense_Mutation_p.G830R|R3HDM1_ENST00000410054.1_Missense_Mutation_p.G774R|R3HDM1_ENST00000409478.1_Missense_Mutation_p.G701R	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	829							nucleic acid binding	p.G829R(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ACCTGGTGGGGGGATGGTGAT	0.453000											OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	58					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154056037	154056037	+	Silent	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:154056037A>G	ENST00000389740.2	-	4	1746	c.1647T>C	c.(1645-1647)atT>atC	p.I549I		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	549						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CACACAAGGGAATGGCAAGGG	0.428000													46	163					0	0	1	0	0
SPG20	23111	broad.mit.edu	37	13	36888512	36888512	+	Silent	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr13:36888512A>G	ENST00000451493.1	-	6	1552	c.1335T>C	c.(1333-1335)acT>acC	p.T445T	SPG20_ENST00000355182.4_Silent_p.T445T|SPG20_ENST00000438666.2_Silent_p.T445T|SPG20_ENST00000494062.2_Silent_p.T445T	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	445					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTGCCTTACCAGTAATCTCAG	0.408000													22	54					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78790192	78790192	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr9:78790192C>G	ENST00000376767.3	+	14	2559	c.2047C>G	c.(2047-2049)Cga>Gga	p.R683G	PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ggaatggaatcgaatcgaatc	0.373000													3	12					0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6977625	6977625	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:6977625C>T	ENST00000278319.5	+	7	2005	c.1417C>T	c.(1417-1419)Cgg>Tgg	p.R473W	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.R473W	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	473					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)		ATCCTTCAACCGGAGCTCCTC	0.388000													7	115					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31571808	31571808	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:31571808G>A	ENST00000379416.3	-	27	3056	c.3008C>T	c.(3007-3009)cCc>cTc	p.P1003L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1003					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AAACTTGGTGGGAATTATGCA	0.383000													4	58					0	0	1	0	0
TAGAP	117289	broad.mit.edu	37	6	159456923	159456923	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:159456923C>T	ENST00000367066.3	-	10	2463	c.2132G>A	c.(2131-2133)cGa>cAa	p.R711Q	RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.R533Q|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	711					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GCTACATCGTCGCACGAGACA	0.567000													6	64					0	0	1	0	0
ST3GAL3	6487	broad.mit.edu	37	1	44364853	44364853	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr1:44364853C>T	ENST00000262915.3	+	9	859	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	ST3GAL3_ENST00000372366.1_Missense_Mutation_p.R158C|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.R159C|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R197C|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R128C|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.R158C|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R159C|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R228C|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R143C|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R213C|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.R159C|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.R143C|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R174C|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000361392.4_Missense_Mutation_p.R159C|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.R143C|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R213C|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R197C|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.R143C|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R128C|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.R159C	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	159					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CCGCTGCCGCCGCTGCATCAT	0.597000													47	6					0	0	1	0	0
AFTPH	54812	broad.mit.edu	37	2	64796313	64796313	+	Silent	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:64796313G>A	ENST00000422803.1	+	4	2489	c.2175G>A	c.(2173-2175)aaG>aaA	p.K725K	AFTPH_ENST00000409933.1_Silent_p.K725K|AFTPH_ENST00000487769.1_Intron|AFTPH_ENST00000238856.4_Silent_p.K725K|AFTPH_ENST00000409183.1_Silent_p.K356K|AFTPH_ENST00000238855.7_Silent_p.K725K			Q6ULP2	AFTIN_HUMAN	aftiphilin	725					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						ATAGCAACAAGAAGCTTTTGT	0.433000													10	106					0	0	1	0	0
IGSF6	10261	broad.mit.edu	37	16	21655635	21655635	+	Silent	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr16:21655635G>A	ENST00000268389.4	-	3	571	c.510C>T	c.(508-510)tgC>tgT	p.C170C	METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	170					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		TGAAGGCCACGCACACACCGG	0.413000													8	171					0	0	1	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18636782	18636782	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:18636782G>A	ENST00000336349.5	-	3	1274	c.1039C>T	c.(1039-1041)Cat>Tat	p.H347Y		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	347	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TGGCTAGGATGGGACAGAGAT	0.542000													34	258					0	0	1	0	0
SOX4	6659	broad.mit.edu	37	6	21595117	21595117	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:21595117A>G	ENST00000244745.1	+	1	1146	c.352A>G	c.(352-354)Aag>Gag	p.K118E	SOX4_ENST00000543472.1_Missense_Mutation_p.K118E	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	118					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			GCTGCGCCTCAAGCACATGGC	0.622000													9	25					0	0	1	0	0
LRRC3	81543	broad.mit.edu	37	21	45876948	45876948	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr21:45876948C>T	ENST00000291592.4	+	2	738	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	141						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CGCCAAGATACGCCTGTCCCA	0.672000													9	76					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2591146	2591146	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr20:2591146C>T	ENST00000358864.1	+	12	1510	c.1495C>T	c.(1495-1497)Cgc>Tgc	p.R499C	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	499						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTACCACCCACGCACTGGACT	0.532000													12	148					0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72398486	72398486	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:72398486G>A	ENST00000359373.5	-	32	5001	c.4150C>T	c.(4150-4152)Cag>Tag	p.Q1384*	ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000334211.8_Nonsense_Mutation_p.Q1150*|ARAP1_ENST00000455638.2_Nonsense_Mutation_p.Q1384*|ARAP1_ENST00000426523.1_Nonsense_Mutation_p.Q1139*|ARAP1_ENST00000393609.3_Nonsense_Mutation_p.Q1395*|ARAP1_ENST00000393605.3_Nonsense_Mutation_p.Q1155*|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000429686.1_Nonsense_Mutation_p.Q1078*			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1395	PH 4.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCTGGTACCTGCACAAACAGA	0.577000													5	183					0	0	1	0	0
CCDC22	28952	broad.mit.edu	37	X	49093692	49093692	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chrX:49093692C>T	ENST00000376227.3	+	2	360	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	CCDC22_ENST00000496651.1_3'UTR	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	64										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						CATGTCTGCCCGGTTCCGCCT	0.592000													24	33					0	0	1	0	0
AQP3	360	broad.mit.edu	37	9	33442900	33442900	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr9:33442900C>T	ENST00000297991.4	-	4	522	c.442G>A	c.(442-444)Gct>Act	p.A148T	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	148					excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		GGGTAGGTAGCAAAGATGCCG	0.562000													6	209					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625905	29625905	+	Missense_Mutation	SNP	T	T	C	rs137871677	by1000genomes	TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr20:29625905T>C	ENST00000278882.3	+	5	529	c.149T>C	c.(148-150)cTt>cCt	p.L50P	FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P|FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P														p.L50P(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGAAAATATCTTGGTATAAAT	0.333000													4	107					0	0	1	0	0
SIRPA	140885	broad.mit.edu	37	20	1905410	1905410	+	Splice_Site	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr20:1905410A>G	ENST00000358771.4	+	5	1240	c.1087_splice	c.e5-1	p.E363_splice	SIRPA_ENST00000400068.3_Splice_Site_p.E363_splice|SIRPA_ENST00000356025.3_Splice_Site_p.E363_splice	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	363					blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		TGGTCCCTAGAGAACACTGGA	0.488000													4	57					0	0	1	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56771305	56771305	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:56771305G>A	ENST00000413728.2	-	8	1510	c.967C>T	c.(967-969)Ctt>Ttt	p.L323F	ARHGEF3_ENST00000296315.3_Missense_Mutation_p.L317F|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.L349F|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.L288F|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.L317F|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.L323F	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	317	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		AAGTAAAGAAGCCGCTCTTTA	0.428000													14	71					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345723	33345723	+	Silent	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr20:33345723C>T	ENST00000374796.2	-	8	3398	c.828G>A	c.(826-828)caG>caA	p.Q276Q	NCOA6_ENST00000359003.2_Silent_p.Q276Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	276	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgttgttgctgctgctgct	0.537000													4	70					0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119103190	119103190	+	Silent	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:119103190G>A	ENST00000264033.4	+	2	604	c.228G>A	c.(226-228)gcG>gcA	p.A76A		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	76	4H.|Cbl-PTB.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CAAAGCTGGCGCTAAAGAATA	0.433000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				11	87					0	0	1	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													5	68					0	0	1	0	0
KDM4E	390245	broad.mit.edu	37	11	94759275	94759275	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:94759275C>T	ENST00000450979.2	+	1	854	c.554C>T	c.(553-555)aCg>aTg	p.T185M		NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN	lysine (K)-specific demethylase 4E	185	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						TGGAAGACCACGTTTGCCTGG	0.537000													4	146					0	0	1	0	0
FAM86FP	0	broad.mit.edu	37	12	8386973	8386973	+	RNA	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr12:8386973C>T	ENST00000427893.2	-	0	793																											AGCCAGCCTCCGCAGGACCCC	0.592000													5	165					0	0	1	0	0
UBE3C	9690	broad.mit.edu	37	7	157000121	157000121	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr7:157000121C>T	ENST00000348165.5	+	12	1808	c.1448C>T	c.(1447-1449)tCc>tTc	p.S483F		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	483					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CAGGTGATATCCAGGGGTTCT	0.338000													32	49					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1427358	1427358	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:1427358G>A	ENST00000446702.2	+	20	3208	c.2581G>A	c.(2581-2583)Gtc>Atc	p.V861I	CNTN6_ENST00000350110.2_Missense_Mutation_p.V861I|CNTN6_ENST00000539053.1_Missense_Mutation_p.V789I			Q9UQ52	CNTN6_HUMAN	contactin 6	861	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CAGTGGAAATGTCACAACCAA	0.418000													21	171					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6924761	6924761	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr19:6924761G>A	ENST00000312053.4	+	15	1901	c.1864G>A	c.(1864-1866)Gcc>Acc	p.A622T	EMR1_ENST00000450315.3_Missense_Mutation_p.A445T|EMR1_ENST00000381404.4_Missense_Mutation_p.A570T|EMR1_ENST00000381407.5_Missense_Mutation_p.A481T|EMR1_ENST00000250572.8_Intron	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	622					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTTGGCCATCGCCACCTTTCT	0.527000													4	96					0	0	1	0	0
RRN3P2	0	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													5	48					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42799051	42799051	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr19:42799051G>T	ENST00000572681.2	+	21	7321	c.7253G>T	c.(7252-7254)cGt>cTt	p.R2418L	CIC_ENST00000160740.3_Missense_Mutation_p.R1510L|CIC_ENST00000575354.2_Missense_Mutation_p.R1512L			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTGAAGATCCGTGAGGTGCGC	0.627000			"""Mis, F, S"""		oligodendroglioma								62	6					5.82089e-37	5.87581e-37	1	1	0
DNAH8	1769	broad.mit.edu	37	6	38773314	38773314	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:38773314A>G	ENST00000359357.3	+	21	2695	c.2441A>G	c.(2440-2442)tAt>tGt	p.Y814C	DNAH8_ENST00000449981.2_Missense_Mutation_p.Y1031C|DNAH8_ENST00000441566.1_Missense_Mutation_p.Y814C					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AACAATGACTATGAAGCTAAT	0.303000													4	75					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92083964	92083964	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr14:92083964C>T	ENST00000256343.3	-	20	2533	c.2377G>A	c.(2377-2379)Gca>Aca	p.A793T		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	793					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TTGCTAGCTGCAGAAATTGTT	0.299000													3	36					0	0	1	0	0
TYSND1	219743	broad.mit.edu	37	10	71899723	71899723	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr10:71899723C>T	ENST00000287078.6	-	4	1657	c.1658G>A	c.(1657-1659)cGg>cAg	p.R553Q	TYSND1_ENST00000494143.1_5'UTR|TYSND1_ENST00000335494.5_3'UTR	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	553					proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CCGCTGCAACCGCCACACCAC	0.627000													6	92					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145293478	145293478	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr1:145293478C>T	ENST00000342960.5	+	1	108	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Missense_Mutation_p.R25C|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	25										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CGAGACATTGCGCCCCCAGCT	0.502000													6	946					0	0	1	0	0
AADACL2	344752	broad.mit.edu	37	3	151475327	151475327	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:151475327G>A	ENST00000356517.3	+	5	1260	c.1151G>A	c.(1150-1152)cGt>cAt	p.R384H	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	384						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTTTATTTACGTCTAGGTCTT	0.333000													41	46					0	0	1	0	0
POU4F3	5459	broad.mit.edu	37	5	145719841	145719841	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr5:145719841C>T	ENST00000230732.4	+	2	940	c.851C>T	c.(850-852)cCg>cTg	p.P284L	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	284					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCGCGGCGCCGGAGAAGCGT	0.582000													11	80					0	0	1	0	0
OR52K1	390036	broad.mit.edu	37	11	4510367	4510367	+	Silent	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:4510367G>A	ENST00000307632.3	+	1	259	c.237G>A	c.(235-237)acG>acA	p.T79T		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTTCTACAACGCTGCCCAAAA	0.483000													5	81					0	0	1	0	0
CDKN1A	1026	broad.mit.edu	37	6	36653546	36653546	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:36653546G>A	ENST00000405375.1	+	3	699	c.464G>A	c.(463-465)cGc>cAc	p.R155H	CDKN1A_ENST00000373711.2_Missense_Mutation_p.R155H|CDKN1A_ENST00000244741.5_Missense_Mutation_p.R155H|CDKN1A_ENST00000448526.2_Missense_Mutation_p.R189H	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	155					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CACTCCAAACGCCGGCTGATC	0.597000													43	317					0	0	1	0	0
SPATA13	221178	broad.mit.edu	37	13	24823639	24823639	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr13:24823639C>T	ENST00000424834.2	+	5	2151	c.1678C>T	c.(1678-1680)Cga>Tga	p.R560*	SPATA13_ENST00000382108.3_Nonsense_Mutation_p.R560*|SPATA13_ENST00000382095.4_5'UTR			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	218	PH.				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CCCCTGGAGGCGAAGCTCATC	0.537000													8	1					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70993483	70993483	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:70993483C>T	ENST00000357250.6	-	6	895	c.737G>A	c.(736-738)cGg>cAg	p.R246Q	COL9A1_ENST00000370496.3_Missense_Mutation_p.R246Q	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	246	Nonhelical region (NC4).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.R246Q(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCTCCTGGGCCGCAGGGGGTC	0.517000													4	16					0	0	1	0	0
HADHA	3030	broad.mit.edu	37	2	26435460	26435460	+	Silent	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:26435460G>A	ENST00000380649.3	-	10	1083	c.954C>T	c.(952-954)gcC>gcT	p.A318A	HADHA_ENST00000457468.2_Silent_p.A231A	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	318					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	AGAGATAACCGGCATCACTCC	0.358000													6	121					0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	53966856	53966856	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chrX:53966856G>C	ENST00000338154.6	-	21	3247	c.2743C>G	c.(2743-2745)Ctg>Gtg	p.L915V	PHF8_ENST00000338946.6_Missense_Mutation_p.L814V|PHF8_ENST00000357988.5_Missense_Mutation_p.L951V	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	951					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GGTACTGTCAGACTGAGATTG	0.532000													3	21					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75893744	75893744	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:75893744T>C	ENST00000322507.8	-	9	1423	c.1114A>G	c.(1114-1116)Act>Gct	p.T372A	COL12A1_ENST00000483888.2_Missense_Mutation_p.T372A|COL12A1_ENST00000416123.2_Missense_Mutation_p.T372A|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	372	Fibronectin type-III 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTTCCTGCAGTCATTGGTGTG	0.478000													11	139					0	0	1	0	0
LHFPL1	340596	broad.mit.edu	37	X	111914413	111914413	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chrX:111914413C>T	ENST00000371968.3	-	2	445	c.206G>A	c.(205-207)cGc>cAc	p.R69H	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Missense_Mutation_p.R69H	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	69						integral to membrane		p.R69H(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						GCTGGCATAGCGCCCACATTC	0.592000													5	93					0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34528987	34528987	+	Silent	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr15:34528987G>A	ENST00000354181.3	-	23	3456	c.2964C>T	c.(2962-2964)taC>taT	p.Y988Y	SLC12A6_ENST00000451844.2_Silent_p.Y800Y|SLC12A6_ENST00000458406.2_Silent_p.Y929Y|SLC12A6_ENST00000397702.2_Silent_p.Y929Y|SLC12A6_ENST00000290209.5_Silent_p.Y937Y|SLC12A6_ENST00000558589.1_Silent_p.Y979Y|SLC12A6_ENST00000560611.1_Silent_p.Y988Y|SLC12A6_ENST00000397707.2_Silent_p.Y973Y|SLC12A6_ENST00000560164.1_Silent_p.Y800Y|SLC12A6_ENST00000558667.1_Silent_p.Y988Y			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	988					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AAGTGCGCTCGTAAGTATATG	0.433000													48	63					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136320669	136320669	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr9:136320669C>T	ENST00000371929.3	+	25	3956	c.3512C>T	c.(3511-3513)cCg>cTg	p.P1171L	ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000356589.2_Intron|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Intron	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1171					cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTCTTCTCCCCGGCTCCCCAG	0.687000													17	127					0	0	1	0	0
TDP1	55775	broad.mit.edu	37	14	90509460	90509460	+	Missense_Mutation	SNP	G	G	A	rs75808917	byFrequency	TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr14:90509460G>A	ENST00000555880.1	+	14	1701	c.1691G>A	c.(1690-1692)cGc>cAc	p.R564H	TDP1_ENST00000393454.2_Silent_p.T600T|TDP1_ENST00000335725.4_Silent_p.T600T|TDP1_ENST00000393452.3_3'UTR|TDP1_ENST00000357382.3_Silent_p.T361T			Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	0					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CACCGGATACGCATGGGAACA	0.418000								Repair of DNA-protein crosslinks					5	75					0	0	1	0	0
PLCXD1	55344	broad.mit.edu	37	X	205505	205505	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chrX:205505G>A	ENST00000381657.2	+	3	747	c.233G>A	c.(232-234)cGc>cAc	p.R78H	PLCXD1_ENST00000484611.2_3'UTR|PLCXD1_ENST00000399012.1_Missense_Mutation_p.R78H|PLCXD1_ENST00000381663.3_Missense_Mutation_p.R78H	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	78	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process		phospholipase C activity			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGCATCACGCGCCCTGTCGTG	0.637000													5	97					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183495362	183495362	+	Silent	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:183495362G>A	ENST00000305135.5	+	19	2805	c.2610G>A	c.(2608-2610)caG>caA	p.Q870Q		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	870					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CATCACCCCAGACTTCTGGAA	0.433000													8	57					0	0	1	0	0
YPEL3	83719	broad.mit.edu	37	16	30106634	30106634	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr16:30106634C>T	ENST00000562641.1	-	1	699	c.170G>A	c.(169-171)cGg>cAg	p.R57Q	YPEL3_ENST00000565479.1_5'UTR|YPEL3_ENST00000398838.4_Missense_Mutation_p.R19Q|YPEL3_ENST00000398841.1_Missense_Mutation_p.R57Q|YPEL3_ENST00000563788.1_Missense_Mutation_p.R19Q|YPEL3_ENST00000566595.1_Missense_Mutation_p.R19Q|YPEL3_ENST00000566134.1_Missense_Mutation_p.R19Q			P61236	YPEL3_HUMAN	yippee-like 3 (Drosophila)	19						nucleolus				endometrium(1)|lung(2)	3						GCTATACCTCCGGTGACAATC	0.642000													72	96					0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65274899	65274899	+	Silent	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr4:65274899C>T	ENST00000381210.3	-	1	281	c.171G>A	c.(169-171)acG>acA	p.T57T	TECRL_ENST00000507440.1_Silent_p.T57T	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	57					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CAAAGTGAGTCGTTTTTGAAT	0.328000													20	19					0	0	1	0	0
MAN1B1	11253	broad.mit.edu	37	9	140003035	140003035	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr9:140003035C>T	ENST00000371589.4	+	13	2165	c.2092C>T	c.(2092-2094)Cct>Tct	p.P698S	MAN1B1_ENST00000474902.1_Missense_Mutation_p.P401S|MAN1B1_ENST00000540391.1_3'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	698					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TATCTGGACCCCTGCCTAGGG	0.597000													6	207					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525560	176525560	+	Silent	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr1:176525560G>A	ENST00000367662.3	+	2	1266	c.102G>A	c.(100-102)ttG>ttA	p.L34L	PAPPA2_ENST00000367661.3_Silent_p.L34L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	34					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGAAATCCTTGGTTGAGAGGG	0.527000													41	111					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74347288	74347288	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:74347288G>A	ENST00000263665.6	-	17	2248	c.2221C>T	c.(2221-2223)Cgc>Tgc	p.R741C		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	741	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CCAAGAGGGCGGAAAGCAACA	0.463000													14	86					0	0	1	0	0
CALCOCO2	10241	broad.mit.edu	37	17	46925765	46925765	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr17:46925765C>G	ENST00000258947.3	+	4	466	c.365C>G	c.(364-366)cCt>cGt	p.P122R	CALCOCO2_ENST00000416445.2_Missense_Mutation_p.P122R|CALCOCO2_ENST00000448105.2_Missense_Mutation_p.P146R|CALCOCO2_ENST00000509507.1_Missense_Mutation_p.P143R|CALCOCO2_ENST00000508679.1_Missense_Mutation_p.P50R	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	122					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						GCAAGTATTCCTTTCCAATTC	0.448000													7	133					0	0	1	0	0
KCTD7	154881	broad.mit.edu	37	7	66104145	66104145	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr7:66104145G>A	ENST00000275532.3	+	4	980	c.796G>A	c.(796-798)Gtg>Atg	p.V266M	KCTD7_ENST00000443322.1_Missense_Mutation_p.V266M	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	266						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GTGCATCGGGGTGTGTGACAA	0.597000													4	56					0	0	1	0	0
E4F1	1877	broad.mit.edu	37	16	2278405	2278405	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr16:2278405C>G	ENST00000301727.4	+	2	238	c.190C>G	c.(190-192)Cag>Gag	p.Q64E	E4F1_ENST00000564139.1_Missense_Mutation_p.Q64E|E4F1_ENST00000565090.1_Missense_Mutation_p.Q64E	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	64	Required for ubiquitin ligase activity.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						CGGCCGCTGCCAGGCAGAGTT	0.662000													27	30					0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43318571	43318571	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr10:43318571G>A	ENST00000374518.4	+	20	3201	c.3138G>A	c.(3136-3138)atG>atA	p.M1046I		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1046					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	p.M1046I(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTAGGGAATGTTTAATTCTG	0.393000													4	198					0	0	1	0	0
AMZ2P1	0	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													9	151					0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111427010	111427010	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:111427010delT	ENST00000393934.3	+	2	971	c.401delT	c.(400-402)ctfs	p.L134fs	PLCXD2_ENST00000477665.1_Frame_Shift_Del_p.L134fs	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	134	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						ATCCATGGGCTTTTTGGCATC	0.502													7	219	---	---	---	---					
PRR23A	729627	broad.mit.edu	37	3	138724681	138724681	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:138724681delC	ENST00000383163.2	-	1	429	c.430delG	c.(430-432)cafs	p.A144fs	MRPS22_ENST00000495075.1_5'UTR	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	144										endometrium(3)|kidney(1)|lung(7)	11						GGGACAGATGCGCAGAAGACT	0.652													24	31	---	---	---	---					
SOX4	6659	broad.mit.edu	37	6	21594934	21594934	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:21594934delG	ENST00000244745.1	+	1	963	c.169delG	c.(169-171)ggfs	p.G57fs	SOX4_ENST00000543472.1_Frame_Shift_Del_p.G57fs	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	57					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			GACCCCGAGTGGGCACATCAA	0.677													13	12	---	---	---	---					
RUFY2	55680	broad.mit.edu	37	10	70156583	70156583	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr10:70156583delT	ENST00000388768.2	-	4	783	c.457delA	c.(457-459)tgfs	p.M153fs	RUFY2_ENST00000602465.1_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	167	RUN.					nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TAATCGGCCATTTTTTTTTGC	0.398													8	86	---	---	---	---					
GBF1	8729	broad.mit.edu	37	10	104122359	104122361	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr10:104122359_104122361delAGA	ENST00000369983.3	+	15	2071_2073	c.1811_1813delAGA	c.(1810-1815)gag>g	p.EK604del		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	604					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)		ACCCAGCAAGAGAAGAAGGAGAC	0.483													9	125	---	---	---	---					
DNM1L	10059	broad.mit.edu	37	12	32861134	32861135	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr12:32861134_32861135delAG	ENST00000452533.2	+	4	509_510	c.345_346delAG	c.(343-348)acaafs	p.TE115fs	DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000549701.1_Frame_Shift_Del_p.TE115fs|DNM1L_ENST00000553257.1_Frame_Shift_Del_p.TE128fs|DNM1L_ENST00000547312.1_Frame_Shift_Del_p.TE115fs|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000381000.4_Frame_Shift_Del_p.TE128fs|DNM1L_ENST00000266481.6_Frame_Shift_Del_p.TE115fs|DNM1L_ENST00000358214.5_Frame_Shift_Del_p.TE128fs	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	115	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AAAATGAAACAGAAAGAATTTC	0.262													21	22	---	---	---	---					
RP11-159L20.2	0	broad.mit.edu	37	14	31260614	31260614	+	RNA	DEL	G	G	-			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr14:31260614delG	ENST00000554665.1	-	0	208																											CCCAGTCTGTGGGCTGCAATG	0.443													2	4	---	---	---	---					
KTN1-AS1	0	broad.mit.edu	37	14	56014174	56014174	+	RNA	DEL	G	G	-	rs72015246		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr14:56014174delG	ENST00000554558.1	-	0	364																											aaaaaaaaaagaaTTGGCACA	0.443													4	9	---	---	---	---					
COL18A1	80781	broad.mit.edu	37	21	46925298	46925306	+	In_Frame_Del	DEL	CCCCCTGGG	CCCCCTGGG	-			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr21:46925298_46925306delCCCCCTGGG	ENST00000359759.4	+	35	4306_4314	c.4285_4293delCCCCCTGGG	c.(4285-4293)del	p.PPG1435del	COL18A1_ENST00000355480.5_In_Frame_Del_p.PPG1200del|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_In_Frame_Del_p.PPG1020del			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1435	Triple-helical region 10 (COL10).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCCTCCGGGCccccctgggccccctgggc	0.713													12	45	---	---	---	---					
